TY - CHAP M1 - Book, Section TI - Disorders of Amino Acid Synthesis: Serine, Proline, Ornithine, and Glutamine A1 - Schwahn, Bernd C. A2 - Kline, Mark W. Y1 - 2018 N1 - T2 - Rudolph's Pediatrics, 23e AB - Almost all disorders of amino acid metabolism are caused by defects in catabolic pathways. However, a few genetic disorders of the biosynthesis of nonessential amino acids have been identified. Deficient endogenous production of serine, proline, ornithine, or glutamine each leads to a deficiency of the respective amino acid and to distinct diseases. The diagnosis requires recognizing a decrease of amino acid concentrations below the reference range. Children with disorders of synthetic pathways are not prone to decompensation under catabolic stress. However, they share signs of compromised intrauterine development and central nervous dysfunction and, if severely affected, suffer from dysmorphism and congenital malformations. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/11 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1182928514 ER -