@inbook{450807dae992462f9b1bd899cee1a5cc,
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.",
keywords = "Adult, Biotin, Biotinidase, Biotinidase deficiency, Myelopathy, Optic atrophy, Spastic diplegia",
author = "Patrick Ferreira and Alicia Chan and Barry Wolf",
note = "Funding Information: Acknowledgment Exome sequencing was performed under the Care4Rare Canada Consortium funded by Genome Canada, the Canadian Institutes of Health Research, the Ontario Genomics Institute, Ontario Research Fund, Genome Quebec, and Children{\textquoteright}s Hospital of Eastern Ontario Foundation. Publisher Copyright: {\textcopyright} SSIEM and Springer-Verlag Berlin Heidelberg 2017.",
year = "2017",
doi = "10.1007/8904_2017_12",
language = "English (US)",
series = "JIMD Reports",
publisher = "Springer",
pages = "117--120",
booktitle = "JIMD Reports",
}
