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Biotinidase Deficiency Associated with Renal Loss of Biocytin and Biotin
Author(s) -
BAUMGARTNER E. REGULA,
SUORMALA TERTTU,
WICK HUGO,
BAUSCH JOCHEN,
BONJOUR JEANPIERRE
Publication year - 1985
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1985.tb18445.x
Subject(s) - medicine
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.