Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1981-10

AUTHORS

A. Munnich, J. M. Saudubray, A. Cotisson, F. X. Coudé, H. Ogier, C. Charpentier, C. Marsac, G. Carré, M. Bourgeay-Causse, J. Frézal

ABSTRACT

Two patients presented in early childhood with (i) alopecia, skin rashs, and dermatitis, (ii) severe hypotonia, ataxia and motor retardation, (iii) frequent episodes of ketoacidosis with hyperlactacidemia. Propionic and methylcrotonic aciduria only appeared on high protein diet. Mitochondrial biotin-dependent carboxylase activities were decreased in the liver and leukocytes, but were similar to control values in fibroblasts cultured in a biotin-free medium. In addition, the plasma biotin was found to be significantly lower than in control subjects. These disorders responded to biotin administration, pointing to biotin-dependent multiple carboxylase deficiencies (MCD). Our report stresses the polymorphism of MCD and suggests that MCD could be of two types: impaired vitamin metabolism (absorption, plasma transport), might result in low plasma biotin with generalized MCD involving acetyl CoA carboxylase. Defective mitochondrial holocarboxylase synthetase might lead to a pure mitochondrial MCD, with fibroblastic deficiency and presumably normal biotin metabolism. More... »

PAGES

203-206

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00441318

DOI

http://dx.doi.org/10.1007/bf00441318

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1082210360

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7198043


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