Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia

N Engl J Med. 1968 Jun 13;278(24):1319-22. doi: 10.1056/NEJM196806132782404.
No abstract available

MeSH terms

  • Acidosis / etiology*
  • Amino Acid Metabolism, Inborn Errors*
  • Chromatography, Thin Layer
  • Coenzyme A / metabolism
  • Dietary Proteins
  • Glycine / blood*
  • Humans
  • Infant
  • Intellectual Disability / etiology
  • Isomerases / metabolism
  • Ketone Bodies / urine*
  • Ligases / metabolism
  • Male
  • Malonates / urine*
  • Vitamin B 12 / therapeutic use

Substances

  • Dietary Proteins
  • Ketone Bodies
  • Malonates
  • Isomerases
  • Ligases
  • Vitamin B 12
  • Coenzyme A
  • Glycine