RT Book, Section
A1 Frerman, Frank E.
A1 Goodman, Stephen I.
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181439340
T1 Defects of Electron Transfer Flavoprotein and Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase: Glutaric Acidemia Type II
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181439340
RD 2023/11/28
AB Electron  transfer  flavoprotein  (ETF)  and  ETF-ubiquinone  oxidoreductase  (ETF-QO)  are  nuclear  encoded  proteins  through  which  electrons  from  flavoprotein  acyl  CoA  dehydrogenases,  dimethylglycine  dehydrogenase,  and  sarcosine  dehydrogenase  enter  ubiquinone  in  the  respiratory  chain.  Inherited  defects  of  either  protein  cause  glutaric  acidemia  type  II.Glutaric  acidemia  type  II  is  characterized  clinically  by  hypoketotic  hypoglycemia  and  metabolic  acidosis;  pathologically  by  fatty  infiltration  of  the  liver,  heart,  and  kidneys;  and  biochemically  by  a  diagnostic  organic  aciduria.  Complete  enzyme  defects,  especially  of  ETF-QO,  are  often  associated  with  multiple  congenital  anomalies,  including  renal  cystic  dysplasia,  and  death  in  infancy.Primary  defects  of  ETF-QO  and  those  of  either  ETF  subunit  are  inherited  as  autosomal  recessive  traits.  Several  pathogenic  mutations  have  been  identified  in  the  genes  for  ETF-QO  and  the  α-ETF  subunit.  No  single  ETF-QO  mutation  is  common,  but  of  six  that  have  been  identified  in  the  α-ETF  gene,  αT266M  may  account  for  about  40  percent  of  mutant  alleles.Prenatal  diagnosis  of  glutaric  acidemia  type  II  is  possible  in  some  cases  by  demonstrating  increased  concentrations  of  glutaric  acid  in  amniotic  fluid,  acylcarnitine  esters  in  maternal  urine,  or  impaired  substrate  oxidation  by  cultured  amniocytes.There  is  no  effective  treatment  for  glutaric  acidemia  type  II  patients  who  present  in  early  infancy.  Treatment  with  riboflavin,  glycine,  and  L-carnitine  and  diets  restricted  in  fat  and  protein  may  be  effective  in  less  severely  affected  patients.