Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy

J Inherit Metab Dis. 1991;14(3):333-7. doi: 10.1007/BF01811696.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency
  • 3-Hydroxyacyl CoA Dehydrogenases / metabolism
  • Adipates / urine*
  • Brain Diseases / congenital
  • Brain Diseases / drug therapy*
  • Brain Diseases / urine
  • Fatty Acids / metabolism
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Infant
  • Liver Cirrhosis / congenital
  • Liver Cirrhosis / drug therapy*
  • Liver Cirrhosis / urine
  • Malonates / urine*
  • Metabolism, Inborn Errors / drug therapy*
  • Metabolism, Inborn Errors / urine
  • Muscular Diseases / congenital
  • Muscular Diseases / drug therapy*
  • Muscular Diseases / urine
  • Myristic Acid
  • Myristic Acids / metabolism
  • Oxidation-Reduction
  • Palmitic Acid
  • Palmitic Acids / metabolism
  • Riboflavin / therapeutic use*

Substances

  • Adipates
  • Fatty Acids
  • Malonates
  • Myristic Acids
  • Palmitic Acids
  • Myristic Acid
  • Palmitic Acid
  • ethylmalonic acid
  • adipic acid
  • 3-Hydroxyacyl CoA Dehydrogenases
  • Riboflavin