Prevalence estimate of sphingosine phosphate lyase insufficiency syndrome in worldwide and select populations.

ABSTRACT:

Purpose

Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is a rare, often fatal, metabolic disorder and monogenic form of steroid-resistant nephrotic syndrome. Other manifestations include primary adrenal insufficiency, ichthyosis, and neurological defects. SPLIS is caused by biallelic pathogenic variants in SGPL1, encoding sphingosine-1-phosphate lyase, a pyridoxal 5'-phosphate-dependent enzyme that catalyzes the final step of sphingolipid metabolism. Treatment is primarily supportive, but pyridoxine supplementation may be therapeutic in some cases, and gene therapy is being explored. We sought to determine the prevalence of SPLIS globally and among different populations to facilitate patient finding in anticipation of SPLIS clinical trials.

Methods

Using p

SUBMITTER: Sedillo JC 

PROVIDER: S-EPMC11613930 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature