Recovery of enzyme activity in biotinidase deficient individuals during early childhood

Autor: Forny, Patrick, Wicht, Andrea, Rüfenacht, Véronique, Cremonesi, Alessio, Häberle, Johannes

Deficiency of the biotinidase (BTD) enzyme is an inborn error of biotin metabolism caused by biallelic pathogenic variants in the BTD gene. There are two forms, partial and profound BTD deficiency, which both can be successfully treated with pharmaco

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Recovery of enzyme activity in biotinidase deficient individuals during early childhood.

Autor: Forny P; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Wicht A; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Rüfenacht V; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Cremonesi A; Division of Clinical Biochemistry and Swiss Newborn Screening, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 May; Vol. 45 (3), pp. 605-620. Date of Electronic Publication: 2022 Mar 03.