title: Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.
abstract: We report a 36-year-old woman who exhibited progressive optic atrophy at 13 years old, then stroke-like episodes and spastic diplegia in her 20s. Biotinidase deficiency was not readily considered in the differential diagnosis, and the definitive diagnosis was not made until pathological variants of the biotinidase gene (BTD) were found by exome sequencing. Profound biotinidase deficiency was confirmed by enzyme analysis. Unfortunately, her symptoms did not resolve or improve with biotin treatment. Biotin therapy is essential for all individuals with profound biotinidase deficiency and for preventing further damage in those who already exhibit irreversible neurological damage. Newborn screening for the disorder would have avoided years of clinical symptoms that now appear to be irreversible with biotin treatment.
authors.affiliation: Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada, T3B 6A8.
authors.forename: Patrick
authors.initials: P
authors.lastname: Ferreira
authors.affiliation: Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada, T6G 2H7.
authors.forename: Alicia
authors.initials: A
authors.lastname: Chan
authors.affiliation: Department of Research Administration, Henry Ford Hospital, Detroit, MI, 48202, USA. bwolf1@hfhs.org.|Center for Molecular Medicine and Genetics, School of Medicine, Wayne State University, Detroit, MI, 48201, USA. bwolf1@hfhs.org.|, 498 Dunston Road, Bloomfield Hills, MI, 48304, USA. bwolf1@hfhs.org.
authors.forename: Barry
authors.initials: B
authors.lastname: Wolf
keywords: Adult; Biotin; Biotinidase; Biotinidase deficiency; Myelopathy; Optic atrophy; Spastic diplegia