RT Book, Section
A1 Kerr, Douglas S.
A1 Bedoyan, Jirair K.
A2 Sarafoglou, Kyriakie
A2 Hoffmann, Georg F.
A2 Roth, Karl S.
SR Print(0)
ID 1140315228
T1 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
T2 Pediatric Endocrinology and Inborn Errors of Metabolism, 2e
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9780071773140
LK accesspediatrics.mhmedical.com/content.aspx?aid=1140315228
RD 2024/04/20
AB Disorders  of  pyruvate  metabolism  and  the  tricarboxylic  acid  (TCA)  cycle  represent  a  major  subset  of  other  recognized  disorders  of  energy  metabolism,  including  a  large  number  of  defects  of  the  mitochondrial  electron  transport  chain  (ETC)  and  oxidative  phosphorylation  (see  Chapter  11)  along  with  defects  of  fatty  acid  β-oxidation  and  gluconeogenesis.  Many  of  these  defects  of  energy  metabolism  are  associated  clinically  with  lactic  acidemia.  Inherited  disorders  of  pyruvate  metabolism,  gluconeogenesis,  the  TCA  cycle,  ETC,  and  oxidative  phosphorylation  are  commonly  referred  to  as  primary  genetic  lactic  acidemias.  Other  groups  of  genetic  disorders  can  also  lead  to  lactic  acidemia,  especially  during  states  of  severe  metabolic  decompensation,  and  are  commonly  referred  to  as  secondary  genetic  lactic  acidemias,  including  defects  of  fatty  acid  β-oxidation  and  organic  acid  catabolism.  In  addition,  lactic  acidemia  is  commonly  caused  by  a  range  of  acute  or  chronic  acquired  conditions  that  produce  impaired  peripheral  oxygenation.  Clinical  differentiation  among  the  primary  genetic  lactic  acidemias,  secondary  lactic  acidemias,  and  acquired  conditions  associated  with  ischemia  or  hypoxemia  is  not  simple  and  ultimately  may  require  detailed  metabolic,  enzymatic,  and/or  genetic  testing.