Alpha-N-acetylgalactosaminidase deficiency

Definition

A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.

Disease data

Classification

Disease

Synonyms

NAGA deficiency

Choroba Schindlera

Niedobór NAGA

Schindler disease

ORPHA code

3137

OMIM code

609242

ICD10 code

E77.1

ICD11 code

5C56.21

*Soruce

No additional description.

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Description of the disease *