Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia

Pediatrics. 1993 Mar;91(3):664-6.
No abstract available

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Biotin / therapeutic use
  • Carbon-Carbon Ligases*
  • Failure to Thrive / etiology*
  • Gastrointestinal Diseases / etiology*
  • Glycine / analogs & derivatives
  • Glycine / urine
  • Humans
  • Infant
  • Ligases / deficiency*
  • Male
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / drug therapy
  • Muscle Hypertonia / etiology*
  • Valerates / urine

Substances

  • Valerates
  • beta-methylcrotonylglycine
  • beta-hydroxyisovaleric acid
  • Biotin
  • Ligases
  • Carbon-Carbon Ligases
  • methylcrotonoyl-CoA carboxylase
  • Glycine