Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria

J Inherit Metab Dis. 2000 Jul;23(5):520-2. doi: 10.1023/a:1005667707355.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Consanguinity
  • Female
  • Homocysteine / blood*
  • Humans
  • Hyperglycinemia, Nonketotic / drug therapy
  • Hyperglycinemia, Nonketotic / genetics*
  • Hyperglycinemia, Nonketotic / metabolism*
  • Infant
  • Infant, Newborn
  • Leucovorin / therapeutic use
  • Male
  • Methylmalonic Acid / urine*
  • Nuclear Family

Substances

  • Homocysteine
  • Methylmalonic Acid
  • Leucovorin