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Dictionary » Gangliosidosis GM3
 

Gangliosidosis GM3

Introduction: Gangliosidosis GM3

Description of Gangliosidosis GM3

Gangliosidosis GM3: A ganglioside biosynthesis disorder caused by (N-acetylneuraminyl)-galactosylglucosylceramide N-acetyl transferase (E.C. 2.4.192) deficiency with excessive accumulation of ganglioside GM3 in the liver and brain tissue and absence of higher ganglioside homologs. Clinical features include limpness, retarded psychomotor development, coarsening of facial features, macroglossia, gingival hypertrophy, hepatosplenomegaly, inguinal hernia, and stubby hands and feet. Most patients die in infancy.
Source: Diseases Database

Gangliosidosis GM3: Related Topics

These medical condition or symptom topics may be relevant to medical information for Gangliosidosis GM3:

External links related to: Gangliosidosis GM3

Source: Diseases Database

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