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Naga deficiency (Schindler disease, Kanzaki disease)
3 types:
1) type 1, Schindler disease (most severe form)
2) type 2, Kanzaki disease (mild form)
3) type 3, Schindler disease type 3 (intermediate form)
Genetics:
- autosomal recessive
- associated with defects in NAGA
Clinical manifestations:
- early (type 1) to late (type 2) onset
- neuroaxonal dystrophy & neurological signs
- convulsion during fever
- epilepsy
- psychomotor retardation
- hypotonia
- angiokeratoma corporis diffusum
Laboratory:
- increased urinary excretion of glycopeptides & oligosaccharides containing alpha-N-acetylgalactosaminyl moieties
- alpha-galactosidase B in fibroblasts
- alpha-galactosidase B in leukocytes
- alpha-galactosidase B in dried blood spot
- alpha-galactosidase B in serum/plasma
Related
alpha-galactosidase B or alpha-N-acetylgalactosaminidase
General
carbohydrate inborn error of metabolism
References
UniProt :accession P17050