Condition: Metachromatic Leukodystrophy due to Saposin B Deficiency


rs121918103 in PSAP gene and Metachromatic Leukodystrophy due to Saposin B Deficiency PMID 2320574 1990 Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.

PMID 2302219 1990 Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.

PMID 10682309 2000 A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).

PMID 2019586 1991 Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.

PMID 10196694 1999 An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.

PMID 30632081 2019 Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.