Article
Novel sphingosine-1-phosphate lyase mutation causes multisystemic diseases: case report.
The Turkish journal of pediatrics - 1 Jan 2023
Büyükyılmaz Gönül, Adıgüzel Keziban Toksoy, Aksoy Özlem Yüksel, Kasapkara Çiğdem Seher, Demir Gizem Ürel, Demir Engin, Ergun Şule Berk, Gürbüz Fatih, Boyraz Mehmet
Abstract excerpt
BACKGROUND: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) caused by inactivating mutations in the human SGPL1 gene results in congenital nephrotic syndrome, adrenal insufficiency, ichthyosis, immunodeficiency, and a wide range of pathological neurological features. We present a novel mutation in the SGPL1 gene causing hypocalcemia, primary adrenal insufficiency (PAI), nephrotic syndrome, subclinical...
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