Catalog

Galactosialidosis

No MMS code

Link to WHO Definition

Galactosialidosis – http://id.who.int/icd/entity/1838660035

Galactosialidosis is a rare lysosomal storage disorder encompassing three clinical phenotypes: the congenital or early infantile form (marked by oedema, ascites, hepatosplenomegaly, neurological disorders, renal failure, facial dysmorphism, skeletal anomalies and cherry-red spots and early blindness), the late infantile form (normal or mildly affected intellectual development), and the juvenile and adult forms (slowly progressing neurological disorder, facial dysmorphism, dysostosis multiplex, cherry-red spots and corneal opacities and angiokeratomas).