Biotinidase Deficiency Associated with Renal Loss of Biocytin and Biotin
Authors:
- 1 June 1985
- journal article
- case report
- Published by Wiley in Annals of the New York Academy of Sciences
- Vol. 447 (1) , 272-287
Abstract
Clinical and biochemical investigations in six patients with congenital biotinidase deficiency are presented. The time course of biotin depletion in relation to carboxylase activities and clinical onset of symptoms was studied after withdrawal of biotin supplementation. Renal biotin clearance studies were performed in patients and controls. Renal loss of biocytin and biotin itself are shown to be a major cause for the increased biotin requirement in patients with congenital biotinidase deficiency.Keywords
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