RT Book, Section
A1 Schwahn, Bernd C.
A2 Kline, Mark W.
SR Print(0)
ID 1182928514
T1 Disorders of Amino Acid Synthesis: Serine, Proline, Ornithine, and Glutamine
T2 Rudolph's Pediatrics, 23e
YR 2018
FD 2018
PB McGraw-Hill Education
PP New York, NY
SN 9781259588594
LK accesspediatrics.mhmedical.com/content.aspx?aid=1182928514
RD 2024/09/13
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.