Cobalamin E (cblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine

J Inherit Metab Dis. 1997 Sep;20(5):705-6. doi: 10.1023/a:1005382627986.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / deficiency*
  • Adult
  • Anemia, Megaloblastic / etiology*
  • Brain Diseases / etiology*
  • Homocystinuria / etiology*
  • Humans
  • Male
  • Methionine / blood*
  • Vitamin B 12 / metabolism*

Substances

  • Methionine
  • 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
  • Vitamin B 12