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Article

Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.

Orphanet journal of rare diseases - 27 Sept 2024

Keller Nancy, Midgley Julian, Khalid Ehtesham, Lesmana Harry, Mathew Georgie, Mincham Christine, Teig Norbert, Khan Zubair, Khosla Indu, Mehr Sam, Guran Tulay, Buder Kathrin, Xu Hong, Alhasan Khalid, Buyukyilmaz Gonul, Weaver Nicole, Saba Julie D

Abstract excerpt

BACKGROUND: Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) is a recently recognized inborn error of metabolism associated with steroid-resistant nephrotic syndrome as well as adrenal insufficiency and immunological, neurological, and skin manifestations. SPLIS is caused by inactivating mutations in SGPL1, encoding the pyridoxal 5'phosphate-dependent enzyme sphingosine-1-phosphate lyase, which...

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Identifiers

PMID: 39334450
DOI: 10.1186/s13023-024-03311-w
PMCID: PMC11429486

Genes

SGPL1

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Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.PMID 39334450Read ↗

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SGPL1 Deficiency: A Rare Cause of Primary Adrenal InsufficiencySemantic proximity Read ↗

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Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndromeSemantic proximity Read ↗

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