Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency

  • Patrick Ferreira
  • Alicia Chan
  • Barry WolfEmail author
Research Report
Part of the JIMD Reports book series (JIMD, volume 36)


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.


Adult Biotin Biotinidase Biotinidase deficiency Myelopathy Optic atrophy Spastic diplegia 



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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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  1. 1.Division of Medical GeneticsAlberta Children’s HospitalCalgaryCanada
  2. 2.Department of Medical GeneticsUniversity of AlbertaEdmontonCanada
  3. 3.Department of Research AdministrationHenry Ford HospitalDetroitUSA
  4. 4.Center for Molecular Medicine and Genetics, School of MedicineWayne State UniversityDetroitUSA
  5. 5.Bloomfield HillsUSA

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