MULTIPLE BIOTIN-DEPENDENT CARBOXYLASE DEFICIENCIES

  • 1 January 1981
    • journal article
    • research article
    • Vol. 38  (2) , 83-90
Abstract
Two patients presented in early childhood with alopecia, skin rashs, and candida dermatitis; severe hypotonia, ataxia and motor retardation; and frequent episodes of ketoacidosis with hyperlacticacidemia. Propionic and methylcrotonic aciduria appeared on hyperprotidic diet. Mitochondrial biotin-dependent carboxylase activities were decreased in the liver and leukocytes, but were paradoxically normal in cultured fibroblasts whatever the biotin content of the medium. These disorders responded to biotin administration, pointing to multiple biotin-dependent carboxylase deficiencies (MCD). The polymorphism of MCD is stressed: major discrepancies concern predominance of 1 carboxylase deficiency, expression of MCD in cultured fibroblasts, and possible involvement of a cytoplasmic biotin enzyme, acetyl Co[coenzyme]A carboxylase (ACC). MCD could be of 2 types: impaired biotin metabolism (absorption, transport, activation) might result in generalized MCD involving ACC. Defective holocarboxylase synthetase might lead to a pure mitochondrial MCD, with fibroblastic deficiency and presumably skin integrity.

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