Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism

N Engl J Med. 1967 Aug 17;277(7):321-7. doi: 10.1056/NEJM196708172770701.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acidosis / genetics*
  • Acidosis / pathology
  • Adult
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Metabolism, Inborn Errors / pathology
  • Child, Preschool
  • Coma / genetics
  • Coma / pathology
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Leucine / metabolism*
  • Male
  • Oxidoreductases / deficiency
  • Pentanoic Acids / blood*
  • Pentanoic Acids / urine

Substances

  • Pentanoic Acids
  • Oxidoreductases
  • Leucine