Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 15/04/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 22/04/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 29/04/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 06/05/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 13/05/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 20/05/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 27/05/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 03/06/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 10/06/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 17/06/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 24/06/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 01/07/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 08/07/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 15/07/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 22/07/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 29/07/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 05/08/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 12/08/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 19/08/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 26/08/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 02/09/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 09/09/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 16/09/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 23/09/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 30/09/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 07/10/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 14/10/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 21/10/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 28/10/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 04/11/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 18/11/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 25/11/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 02/12/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 09/12/2007

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 16/12/2007

Orphanet database access

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Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 23/12/2007

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Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 30/12/2007

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Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 06/01/2008

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Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 13/01/2008

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 20/01/2008

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 27/01/2008

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 03/02/2008

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 10/02/2008

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 17/02/2008

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 24/02/2008

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 02/03/2008

Orphanet database access

Orphanet database access

Abetalipoproteinemia Direct access to data Summary Abetaliproteinemia is an autosomal recessive inherited inborn error of lipoprotein metabolism caused by mutation in a subunit of the microsomal trygliceride transfer protein (MTP), whose gene maps to chromosome 4q22-q24. This disease is very rare. Clinical features are malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy. Red cells show a peculiar ``thorny'' deformation called acanthocytosis. The neurological symptoms are directly related to a deficiency of liposoluble vitamin E. Total cholesterol is low (<70 mg/dL) and triglycerides are almost undetectable. A lipoprotein profile shows absent low-density and very low-density lipoproteins. Author: Dr F Palau (October 2003)*. Clinical signs Autosomal recessive inheritance Malabsorption/chronic diarrhoea Areflexia/hyporeflexia Ataxia/incoordination Hypotonia Movement disorder Retinal pigmentary changes peripheral Visual loss-severe Update : 09/03/2008

Orphanet database access