Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

J Inherit Metab Dis. 1997 Jul;20(3):383-6. doi: 10.1023/a:1005390214391.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Metabolism, Inborn Errors / urine*
  • DNA Mutational Analysis
  • Family
  • Female
  • Glutarates / urine*
  • Glutaryl-CoA Dehydrogenase
  • Humans
  • Infant
  • Male
  • Mutation*
  • Netherlands
  • Oxidoreductases / genetics*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Polymerase Chain Reaction
  • Spain

Substances

  • Glutarates
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • Glutaryl-CoA Dehydrogenase