Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood

N Engl J Med. 1988 Jun 30;318(26):1738-41. doi: 10.1056/NEJM198806303182607.
No abstract available

Publication types

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

MeSH terms

  • 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / metabolism
  • Adult
  • Diagnosis, Differential
  • Female
  • Homocystinuria / diagnosis
  • Humans
  • Methylmalonic Acid / urine
  • Methylmalonyl-CoA Mutase / metabolism
  • Multiple Sclerosis / diagnosis
  • Mutation
  • Nervous System Diseases / etiology*
  • Vitamin B 12 / metabolism*
  • Vitamin B 12 Deficiency / complications
  • Vitamin B 12 Deficiency / congenital*
  • Vitamin B 12 Deficiency / diagnosis

Substances

  • Methylmalonic Acid
  • 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
  • Methylmalonyl-CoA Mutase
  • Vitamin B 12