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SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency

3 Dec 2018

Abstract excerpt

CONTEXT: Multiple autosomal recessive genes have been etiologically linked to primary adrenal insufficiency (PAI). Recently, sphingosine-1-phosphate lyase 1 (SGPL1) gene mutations were recognized as a cause of steroid-resistant nephrotic syndrome type 14 (NPHS14), a sphingolipidosis with multisystemic manifestations, including PAI. OBJECTIVE: To check if SGPL1 mutations are involved in the pathogenesis of PAI in...

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PMID: 30517686
DOI: 10.1210/jc.2018-02238

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