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Rare Saposin A deficiency: Novel variant and psychosine analysis.

Abstract：

:Saposin A is a post-translation product of the prosaposin (PSAP) gene that serves as an activator protein of the galactocerebrosidase (GALC) enzyme, and is necessary for the degradation of certain glycosphingolipids. Deficiency of saposin A leads to a clinical picture identical to that of early-infantile Krabbe disease caused by GALC enzyme deficiency. Galactosylsphingosine, also known as psychosine, is a substrate of the GALC enzyme that is known to be elevated in classic Krabbe disease. We present the case of an 18-month-old male with clinical and radiological findings concerning for Krabbe disease who had preserved GALC enzyme activity and negative GALC gene sequencing, but was found to have a homozygous variant, c.257 T > A (p.I86N), in the saposin A peptide of PSAP. Psychosine determination on dried blood spot at 18 months of age was elevated to 12 nmol/L (normal <3 nmol/L). We present this case to add to the literature on the rare diagnosis of atypical Krabbe disease due to saposin A deficiency, to report a novel presumed pathogenic variant within PSAP, and to suggest that individuals with saposin A deficiency may have elevated levels of psychosine, similar to children with classic Krabbe disease due to GALC deficiency.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Calderwood L,Wenger DA,Matern D,Dahmoush H,Watiker V,Lee C

doi

10.1016/j.ymgme.2019.08.001

subject

Has Abstract

pub_date

2020-02-01 00:00:00

pages

161-164

issue

2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(19)30410-X

journal_volume

129

pub_type

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