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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

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

Detailed information

Professionals

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.