GM1 gangliosidosis

Orpha code: 354OMIM code: 230650

Definition

GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.

Disease data
Classification

Disease

Synonyms
Beta-galactosidase-1 deficiency
Choroba Landinga
Niedobór beta-galaktozydazy-1
Niedobór GLB1
GLB1 deficiency
Landing disease
ORPHA code
354
OMIM code
230650
ICD10 code
E75.1
ICD11 code
5C56.00

No additional description.

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