Metachromatic leukodystrophy due to saposin b deficiency - CISMeF
Metachromatic leukodystrophy due to saposin b deficiencyOMIM Phenotype
Preferred Label : Metachromatic leukodystrophy due to saposin b deficiency;
Symbol : MLDSAPB;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Saposin b deficiency; Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the prosaposin gene (PSAP, 176801.0001);
Laboratory abnormalities : Saposin B deficiency; Normal or mildly decreased arylsulfatase A activity; Submucosal macrophages filled with sphingolipids; Increased urinary sulfatides;