Search
metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency
Genetics:
- defects in PSAP saposin B region are a cause of metachromatic leukodystrophy variant
Related
saposin B; sphingolipid activator protein-1; SAP-1; dispersin; sulfatide/GM1 activator
General
metachromatic leukodystrophy
Properties
DEFICIENCY: saposin B
Database Correlations
OMIM 249900
References
OMIM :accession 176801