Journal article
Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy.
Abstract
Two infants with lethargy, vomiting, convulsions, coma and marked metabolic acidosis were found to have very high concentrations of methylmalonic acid in their serum and urine. In vitro studies of fibroblasts demonstrated that the infants had different variants of methylmalonic acidemia.Vitamin B(12) was given in two different forms at 1 month of age and at 12 months of age. Each trial continued for 4 months but neither infant showed a clinical …
Authors
Whelan DT; Ryan E; Spate M; Morris M; Hurley RM; Hill R
Journal
Canadian Medical Association Journal, Vol. 120, No. 10, pp. 1230–1235
Publication Date
May 19, 1979
ISSN
0820-3946