A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy

A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy

Background: Loss of function mutations in SGPL1 are associated with Sphingosine-1-phosphate lyase insufficiency syndrome, comprising steroid resistant nephrotic syndrome, and primary adrenal insufficiency (PAI) in the majority of cases. SGPL1 encodes sphingosine-1-phosphate lyase (SGPL1) which is a...

Full description

Bibliographic Details
Main Authors: Avinaash Maharaj, Demetria Theodorou, Indraneel (Indi) Banerjee, Louise A. Metherell, Rathi Prasad, Dean Wallace
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-04-01
Series:Frontiers in Pediatrics
Subjects:
SGPL1
sphingosine-1-phosphate lyase
congenital nephrotic syndrome
primary adrenal insufficiency
multiple endocrinopathy
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00151/full

Similar Items

Similar Items