" /> Metachromatic leukodystrophy due to saposin b deficiency - CISMeF





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;

Prefixed ID : #249900;

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26/07/2025


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