Orphanet: Alpha N acetylgalactosaminidase deficiency

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Alpha-N-acetylgalactosaminidase deficiency

Disease definition

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


Classification level: Disorder
  • Synonym(s):
    • NAGA deficiency
    • Schindler disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood, Adult
  • ICD-10: E77.1
  • OMIM: 609241  609242
  • UMLS: C0342850  C1836544
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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