Impaired Intestinal Absorption of Biotin in Juvenile Multiple Carboxylase Deficiency
- 17 March 1983
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 308 (11), 639-642
- https://doi.org/10.1056/nejm198303173081107
Abstract
THE syndrome of biotin-responsive multiple carboxylase deficiency has two relatively distinct phenotypes: a neonatal form, with the onset of life-threatening lactic acidosis, seizures, and erythematous rash occurring in the first weeks of life,1 and a juvenile form, with later onset of acute symptoms of ataxia, alopecia, and keratoconjunctivitis, in addition to seizures and lactic acidosis.2 , 3 Both forms are characterized by an elevation in metabolites proximal to the three biotin-dependent carboxylase reactions, and both show a dramatic response to the administration of pharmacologic doses of biotin. One patient with the neonatal form had deficient activity of biotin holocarboxylase synthetase,4 the enzyme . . .Keywords
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