Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype

J Inherit Metab Dis. 2003;26(1):72-4. doi: 10.1023/a:1024087832406.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diet therapy
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Metabolism, Inborn Errors / physiopathology*
  • Brain / pathology
  • DNA Mutational Analysis
  • Diet, Protein-Restricted
  • Glutarates / urine
  • Glutaryl-CoA Dehydrogenase
  • Homozygote
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Mutation / physiology*
  • Nervous System Diseases / diet therapy
  • Nervous System Diseases / genetics*
  • Nervous System Diseases / physiopathology*
  • Oxidoreductases Acting on CH-CH Group Donors / deficiency
  • Oxidoreductases Acting on CH-CH Group Donors / genetics*
  • Phenotype

Substances

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