Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.

doi:10.1002/jimd.12238

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Article

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.

Journal of inherited metabolic disease - 1 Sept 2020

Zhao Piming, Liu Isaac D, Hodgin Jeffrey B, Benke Peter I, Selva Jeremy, Torta Federico, Wenk Markus R, Endrizzi James A, West Olivia, Ou Weixing, Tang Emily, Goh Denise Li-Meng, Tay Stacey Kiat-Hong, Yap Hui-Kim, Loh Alwin, Weaver Nicole, Sullivan Bonnie, Larson Austin, Cooper Megan A, Alhasan Khalid, Alangari Abdullah A, Salim Suha, Gumus Evren, Chen Karin, Zenker Martin, Hildebrandt Friedhelm, Saba Julie D

Abstract excerpt

Sphingosine-1-phosphate (S1P) lyase is a vitamin B6-dependent enzyme that degrades sphingosine-1-phosphate in the final step of sphingolipid metabolism. In 2017, a new inherited disorder was described caused by mutations in SGPL1, which encodes sphingosine phosphate lyase (SPL). This condition is referred to as SPL insufficiency syndrome (SPLIS) or alternatively as nephrotic syndrome type 14 (NPHS14). Patients...

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PMID: 32233035
DOI: 10.1002/jimd.12238
PMCID: PMC8072405

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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