Article
MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome.
AJNR. American journal of neuroradiology - 1 Oct 2020
Martin K W, Weaver N, Alhasan K, Gumus E, Sullivan B R, Zenker M, Hildebrandt F, Saba J D
Abstract excerpt
SGPL1 encodes sphingosine-1-phosphate lyase, the final enzyme of sphingolipid metabolism. In 2017, a condition featuring steroid-resistant nephrotic syndrome and/or adrenal insufficiency associated with pathogenic SGPL1 variants was reported. In addition to the main features of the disease, patients often exhibit a range of neurologic deficits. In a handful of cases, brain imaging results were described. However,...
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