The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family

J Inherit Metab Dis. 1994;17(3):287-90. doi: 10.1007/BF00711809.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bile Acids and Salts / blood
  • Fatty Acids / blood
  • Fibroblasts / enzymology
  • Gas Chromatography-Mass Spectrometry
  • Glutarates / urine
  • Glutaryl-CoA Dehydrogenase
  • Humans
  • Male
  • Mixed Function Oxygenases / metabolism
  • Oxidoreductases / deficiency*
  • Oxidoreductases / genetics
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Phytanic Acid / urine
  • Refsum Disease / genetics*

Substances

  • Bile Acids and Salts
  • Fatty Acids
  • Glutarates
  • Phytanic Acid
  • Mixed Function Oxygenases
  • Oxidoreductases
  • phytanic acid alpha-oxidase
  • Oxidoreductases Acting on CH-CH Group Donors
  • Glutaryl-CoA Dehydrogenase