Title
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency
Recommended Citation
Ferreira P, Chan A, Wolf B. Irreversibility of symptoms with biotin therapy in an adult with profound biotinidase deficiency. JIMD Rep. 2017 ;36:117-120.
Document Type
Article
Publication Date
1-1-2017
Publication Title
JIMD Rep
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.
PubMed ID
28220409
Volume
36
First Page
117
Last Page
120
