Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.

Details

Serval ID
serval:BIB_055AA4A36D35
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.
Journal
Frontiers in neurology
Author(s)
Van Winckel G., Ballhausen D., Wolf B., Procter M., Mao R., Burda P., Strambo D., Kuntzer T., Tran C.
ISSN
1664-2295 (Print)
ISSN-L
1664-2295
Publication state
Published
Issued date
2020
Peer-reviewed
Oui
Volume
11
Pages
516799
Language
english
Notes
Publication types: Case Reports
Publication Status: epublish
Abstract
Biotinidase deficiency is an autosomal recessive disorder in which affected individuals are unable to recycle biotin. Untreated, children usually exhibit hypotonia, seizures, ataxia, developmental delay, and/or hearing loss. Individuals diagnosed by newborn screening have an excellent prognosis with life-long biotin supplementation. We report a young adult diagnosed with profound biotinidase deficiency by newborn screening who was asymptomatic while on therapy. At 18 years of age, 6 months after voluntarily discontinuation of biotin, he developed a progressive distal muscle weakness. Molecular analysis of the BTD gene showed a pathogenic homozygous duplication c.1372_1373dupT p.(Cys458LeufsTer26) (1). Despite 16 months since reintroduction of biotin, muscle strength only partially recovered. Transition to adulthood in chronic metabolic diseases is known to be associated with an increased risk for non-compliance. Neurological findings in this adult are similar to those described in others with adult-onset biotinidase deficiency. Long-term prognosis in non-compliant symptomatic adult with biotinidase deficiency likely depends on the delay and/or severity of intervening symptoms until reintroduction of biotin.
Keywords
Neurology, Clinical Neurology, biotin, biotinidase deficiency, newborn screening non-compliance, spinal cord involvement, tetraparesis
Pubmed
Web of science
Open Access
Yes
Create date
10/11/2020 13:59
Last modification date
25/11/2020 7:25
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