Cobalamin C Mutation (Methylmalonic Aciduria and Homocystinuria) in Adolescence: A Treatable Cause of Dementia and Myelopathy

Shlomo Shinnar, Harvey S. Singer

Research output: Contribution to journalArticle

59 Scopus citations

Abstract

DISORDERS of cobalamin (vitamin B12) can be divided into those associated with a deficiency of this essential cofactor and those due to inborn metabolic errors. When they are a result of an inborn error of metabolism, symptoms usually appear in infancy and consist of failure to thrive, developmental retardation, seizures, and hematologic abnormalities.1 2 3 4 5 6 7 8 9 10 In contrast, cobalamin-deficiency disorders generally occur in adulthood and are associated with megaloblastic anemia, subacute combined degeneration, and mental disturbances.11 In this report, we describe an adolescent girl with progressive dementia and myelopathy secondary to a familial intracellular defect of B]2 metabolism (cobalamin C mutation),.

Original languageEnglish (US)
Pages (from-to)451-454
Number of pages4
JournalNew England Journal of Medicine
Volume311
Issue number7
DOIs
StatePublished - Aug 16 1984
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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