Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalamin

M. L. Batshaw, G. H. Thomas, S. R. Cohen, R. Matalon, M. J. Mahoney

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

A 30-month-old girl was found to have the cbl B mutant form of methylmalonic aciduria by complementation analysis of fibroblasts. She was unresponsive to hydroxycobalamin and was treated with intramuscular adenosylcobalamin (AdoCbl), the deficient coenzyme, at a dose of 1 mg/24 h during a period of clinical stability. Serum cobalamin increased from 770 to 54 200 pg/ml. Mean urinary methylmalonic acid excretion was 409 mg/24 h prior to therapy. There was a transient fall in methylmalonic acid excretion during the first 5 days of therapy (range 167-245 mg/24 h) followed by a rise in excretion toward pretreatment levels (range 317-485 mg/24 h) during the second week of AdoCbl treatment. There was no change in plasma ammonia, glycine or serum bicarbonate level. We interpret the failure of this child to have a sustained and clinically significant response to AdoCbl as indicating that AdoCbl did not reach or enter the mitochondria intact, or in some other way was unavailable as a coenzyme for the methylmalonyl CoA mutase apoenzyme.

Original languageEnglish (US)
Pages (from-to)65-68
Number of pages4
JournalJournal of Inherited Metabolic Disease
Volume7
Issue number2
DOIs
StatePublished - Jun 1 1984
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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