" /> Krabbe disease, atypical, due to saposin a deficiency - CISMeF





Preferred Label : Krabbe disease, atypical, due to saposin a deficiency;

Symbol : KRBSAPA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Saposin a deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the prosaposin gene (PSAP, 176801.0009).;

Laboratory abnormalities : Decreased activity of galactocerebrosidase; Saposin A deficiency;

Prefixed ID : #611722;

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03/05/2025


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