[Alopecia, chronic candidodis, mental retardation and repeated ketoacidosic comas curable by biotin administration: multiple carboxylases deficiency (author's transl)].
Multiple carboxylases deficiency, a recently identified metabolic disease in infants, can be cured by the administration of biotine, a cofactor of the carboxylases: pyruvate, propionyl coenzyme A (CoA), methylcrotonyl CoA, and acetyl CoA. The disorder presents as alopecia, associated with chronic candidosis, psychomotor retardation, and frequent episodes of ketoacidosis coma which responded to biotine treatment. Biological signs, related to the deficiency of the individual enzymes, are observed as hyperlactacidemia, propionic aciduria, and methylcrotonylglycinuria. The metabolic basis of this vitamin-dependent size is still obscure, but the research stimulated by this new disease should clarify the still poorly understood physiological role of this vitamin in humans.
D000138:Acidosis / Q000209:etiology*; D000505:Alopecia / Q000209:etiology*; D001710:Biotin / Q000627:therapeutic use*; D002177:Candidiasis / Q000209:etiology*; D003128:Coma / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology*; D007662:Ketosis / Q000209:etiology*; D008025:Ligases / Q000172:deficiency*
D001710:Biotin; D008025:Ligases
Alopécie, candidose chronique, retard mental et comas acidocétosiques à répétition curables par la biotine. Déficit multiple des carboxylases.