Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency

Abstract excerpt

Neu-Laxova syndrome (NLS) is a very rare autosomal recessive congenital disorder characterized by disturbed development of the central nervous system and the skin and caused by mutations in any of the three genes involved in de novo l-serine biosynthesis: PHGDH , PSAT1 , and PSPH . l-Serine is essential for the biosynthesis of phosphatidylserine and sphingolipids. The extracellular lipid of the stratum corneum,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Enzymes and Metabolism
• Share to Biomedical Research and Pathophysiology
• Share to Metabolism and Genetic Disorders