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Galactosialidosis

Disease definition

Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

ORPHA:351

Classification level: Disorder
  • Synonym(s):
    • Goldberg syndrome
    • Neuraminidase deficiency with beta-galactosidase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E77.1
  • ICD-11: 5C56.21
  • OMIM: 256540
  • UMLS: C0268233
  • MeSH: C536411
  • GARD: 3953
  • MedDRA: 10083306

  A summary on this disease is available in Deutsch (2017) Español (2017) Nederlands (2017) Italiano (2003) Français (2015)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.