Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene

Mol Genet Metab. Sep-Oct 2002;77(1-2):86-90. doi: 10.1016/s1096-7192(02)00138-5.

Abstract

Glutaric acidemia type II is a human inborn error of metabolism which can be due to defects in either subunit of electron transfer flavoprotein (ETF) or in ETF:ubiquinone oxidoreductase (ETF:QO), but few disease-causing mutations have been described. The ETF:QO gene is located on 4q33, and contains 13 exons. Primers to amplify these exons are presented, together with mutations identified by molecular analysis of 20 ETF:QO-deficient patients. Twenty-one different disease-causing mutations were identified on 36 of the 40 chromosomes.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / blood
  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Base Sequence
  • DNA Mutational Analysis
  • DNA, Complementary / genetics
  • Electron-Transferring Flavoproteins*
  • Exons
  • Fatty Acid Desaturases / deficiency*
  • Fatty Acid Desaturases / genetics*
  • Genotype
  • Glutarates / blood*
  • Humans
  • Introns
  • Iron-Sulfur Proteins*
  • Lipid Metabolism, Inborn Errors / blood
  • Lipid Metabolism, Inborn Errors / enzymology*
  • Lipid Metabolism, Inborn Errors / genetics*
  • Multienzyme Complexes / deficiency*
  • Multienzyme Complexes / genetics*
  • Mutation*
  • Oxidoreductases Acting on CH-NH Group Donors*
  • Phenotype

Substances

  • DNA, Complementary
  • Electron-Transferring Flavoproteins
  • Glutarates
  • Iron-Sulfur Proteins
  • Multienzyme Complexes
  • Fatty Acid Desaturases
  • Oxidoreductases Acting on CH-NH Group Donors
  • electron-transferring-flavoprotein dehydrogenase
  • glutaric acid