Alpha-N-acetylgalactosaminidase deficiency
ORPHA:3137· ICD-10 E77.1
Definition
A very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Childhood, Infancy