On the phenotypic spectrum of serine biosynthesis defects

• Published in: Journal of inherited metabolic disease Vol. 39; no. 3; pp. 373 - 381
• Main Authors: El-Hattab, Ayman W., Shaheen, Ranad, Hertecant, Jozef, Galadari, Hassan I., Albaqawi, Badi S., Nabil, Amira, Alkuraya, Fowzan S.
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.05.2016; Blackwell Publishing Ltd
• Subjects: Abnormalities, Multiple - genetics; Biochemistry; Brain Diseases - genetics; Fetal Growth Retardation - genetics; Human Genetics; Humans; Ichthyosis - genetics; Infant; Infant, Newborn; Internal Medicine; Limb Deformities, Congenital - genetics; Male; Medicine; Medicine & Public Health; Metabolic Diseases; Microcephaly - genetics; Mutation - genetics; Original Article; Pediatrics; Phenotype; Phosphoglycerate Dehydrogenase - genetics; Phosphoric Monoester Hydrolases - genetics; Serine - biosynthesis; Serine - genetics; Transaminases - genetics

L-serine is a non-essential amino acid that is de novo synthesized via the enzymes phosphoglycerate dehydrogenase (PGDH), phosphoserine aminotransferase (PSAT), and phosphoserine phosphatase (PSP). Besides its role in protein synthesis, L-serine is a precursor of a number of important compounds. Ser...