gangliosidosis GM2 type II

[autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A and B which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs; clinical manifestations resemble Tay-Sachs disease. ( CSP )]

UMLS (CSP) C0036161

Disease or Syndrome

Relation/PAR: Gangliosidoses
enzyme deficiency
Gangliosidoses GM2

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