Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria

Dennis W. Bartholomew, Mark L. Batshaw, Robert H. Allen, Charles R. Roe, David Rosenblatt, David L. Valle, Clair A. Francomano

Research output: Contribution to journalArticle

Abstract

The use of hydroxocobalamin (OH-B12), betaine, carnitine, and folinic acid were studied in two children with the cobalamin C form of methylmalonic acidemia and homocystinuria. When daily injections of 1 mg OH-B12 were discontinued for 3 weeks, there was no significant change in total plasma homocysteine or methionine levels and only a modest increase in methylmalonate. Orally administered OH-B12 1 mg/d in one patient was associated with an increase in plasma homocystine and a decrease in methionine within 1 month. Withdrawal of betaine 250 mg/kg/d was also associated with a rise in plasma homocystine and a fall in methionine levels. Carnitine 100 mg/kg/d led to an increase in urinary excretion of propionylcarnitine, but did not affect plasma methylmalonate levels. No beneficial biochemical effect of follinic acid could be documented at a dose of 25 mg/d. Our results suggest that daily injections of OH-B12 are not necessary to maintain metabolic control and that orally administered OH-B12 is unlikely to be effective. Betaine appears to act synergistically with OH-B12 and should be part of the treatment regimen. Although there are theoretical reasons for using l-carnitine and folinic acid, we could not document their effectiveness in these two patients.

Original languageEnglish (US)
Pages (from-to)32-39
Number of pages8
JournalThe Journal of pediatrics
Volume112
Issue number1
DOIs
StatePublished - Jan 1988

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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