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.
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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’s Hospital of Eastern Ontario Foundation.
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Communicated by: Gerard T. Berry, MD
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Dr. Ferreira is a treating physician and helped write the manuscript.
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Dr. Chan is a treating physician and helped write the manuscript.
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Dr. Wolf planned, organized and wrote the manuscript.
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Barry Wolf
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Alicia Chan
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Ferreira, P., Chan, A., Wolf, B. (2017). Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 36. JIMD Reports, vol 36. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_12
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DOI: https://doi.org/10.1007/8904_2017_12
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