Malonic aciduria and cardiomyopathy

J Inherit Metab Dis. 1993;16(3):571-3. doi: 10.1007/BF00711684.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acidosis / urine*
  • Carboxy-Lyases / deficiency
  • Cardiomyopathies / complications
  • Cardiomyopathies / urine*
  • Fibroblasts / enzymology
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Infant
  • Male
  • Malonates / urine*
  • Muscle Hypotonia / complications
  • Muscle Hypotonia / enzymology
  • Muscle Hypotonia / urine
  • Seizures / complications

Substances

  • Malonates
  • malonic acid
  • Carboxy-Lyases
  • malonyl-CoA decarboxylase