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Pyridoxine supplementation confers protection against <i> SGPL1 <sup>R222Q</sup> </i> variant sphingosine phosphate lyase insufficiency syndrome

2026-05-14

Abstract excerpt

Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) is a rare condition causing nephrotic syndrome, neuropathy, and other manifestations. SPLIS is caused by mutations in SGPL1 , which encodes sphingosine-1-phosphate lyase (SPL), a pyridoxal 5’-phosphate (PLP)-dependent enzyme needed to degrade the bioactive sphingolipid sphingosine-1-phosphate (S1P). Supplementation with the PLP precursor pyridoxine bene...

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Literature Corpus work
83f25830-640e-5bbc-9759-1183bd8e4fcb
DOI
10.64898/2026.05.11.724358
Open publication

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