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

• Main Authors: Avinaash Maharaj (Author), Demetria Theodorou (Author), Indraneel (Indi) (Author), Louise A. Metherell (Author), Rathi Prasad (Author), Dean Wallace (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...