A5072234527- Polyamine Metabolism and Applications
- Epigenetics and DNA Methylation
- Amino Acid Enzymes and Metabolism
Pacific Northwest Diabetes Research Institute
2023
University of Washington
2023
Reduced activity of the enzymes encoded by PHGDH, PSAT1, and PSPH causes a set ultrarare, autosomal recessive diseases known as serine biosynthesis defects. These present in broad phenotypic spectrum: at severe end is Neu-Laxova syndrome, intermediate range are infantile defects with neurological manifestations growth deficiency, mild childhood disease intellectual disability. However, L-serine supplementation, especially if started early, can ameliorate some cases even prevent symptoms....
Pathogenic variants in PHGDH, PSAT1 , and PSPH cause a set of rare, autosomal recessive diseases known as serine biosynthesis defects. Serine defects present broad phenotypic spectrum that includes, at the severe end, Neu-Laxova syndrome, lethal multiple congenital anomaly disease, intermediately form infantile with neurological manifestations growth deficiency, mild childhood disease intellectual disability. However, because L-serine supplementation, especially if started early, can...