RT Book, Section
A1 Schwahn, Bernd Christian
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 6724983
T1 Chapter 139. Disorders of Glycine, Serine, and Proline Metabolism
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=6724983
RD 2024/04/18
AB Glycine  and  serine  are  nonessential  amino  acids  that  feed  into  many  synthetic  pathways.  Both  are  involved  in  transfer  of  one-carbon  units.  Proline  is  a  nonessential  amino  acid  that  has  unique  biochemical  properties.  While  most  disorders  of  amino  acid  metabolism  disrupt  catabolic  pathways,  only  a  few  affect  the  synthesis  of  amino  acids.  Three  of  them  compromise  the  production  of  serine  or  proline.  Formation  and  elimination  of  glycine  occurs  through  many  pathways.  One  precursor  of  glycine  is  choline,  which  can  be  oxidized  to  betaine  and  sequentially  demethylated  to  dimethylglycine,  sarcosine,  and  glycine,  which  is  finally  degraded  to  CO2  and  NH3.  Four  known  defects  in  glycine  metabolism  lead  to  distinct  biochemical  or  clinical  phenotypes.