Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy

N Engl J Med. 1984 Aug 16;311(7):451-4. doi: 10.1056/NEJM198408163110707.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Child
  • Female
  • Homocystinuria / complications
  • Homocystinuria / genetics*
  • Humans
  • Hydroxocobalamin / therapeutic use
  • Infant
  • Male
  • Malonates / urine*
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / drug therapy
  • Metabolism, Inborn Errors / genetics*
  • Metabolism, Inborn Errors / urine
  • Methylmalonic Acid / urine*
  • Mutation
  • Neurocognitive Disorders / etiology
  • Spinal Cord Diseases / etiology
  • Vitamin B 12 / genetics
  • Vitamin B 12 / metabolism*

Substances

  • Malonates
  • Methylmalonic Acid
  • Vitamin B 12
  • Hydroxocobalamin