Biotin-responsive in vivo carboxylase deficiency in two siblings with secretory diarrhea receiving total parenteral nutrition - 07/10/17
Abstract |
Two siblings with a congenital syndrome of secretory diarrhea and seizures developed progressive skinrash, alopecia, and mucocutaneous candidiasis while receiving biotin-free total parenteral nutrition. Abnormally low urinary biotin excretion was associated with these clinical findings, but the serum concentration of biotin was within the normal range. There was also increased urinary excretion of lactic acid, 3-hydroxyisovaleric acid, 3-hydroxypropionic acid, and 3-methylcrotonylglycine. The younger of the two children subsequently died with severe metabolic acidosis. In the older sibling, intravenous treatment with biotin (200 μg/day) resulted in resolution of the organic aciduria. A larger dose (10 mg/day) appeared to be required for rapid improvement in the skin lesions. These cases suggest that clinically significant biotin deficiency can occur in patients with chronic diarrhea receiving biotin-free total parenteral nutrition.
Le texte complet de cet article est disponible en PDF.† | Supported by Maternal and Child Health Special Project 252, by National Institutes of Health grant HD-04024, by National Institutes of Health grant HD-07778, and by grant MCT 915, Bureau of Maternal and Child Health, HSA, Department of Health and Human Services. |
Vol 99 - N° 4
P. 546-550 - octobre 1981 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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