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Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy
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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7649240/ https://www.ncbi.nlm.nih.gov/pubmed/33192963 http://dx.doi.org/10.3389/fneur.2020.516799 |
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author | Van Winckel, Géraldine Ballhausen, Diana Wolf, Barry Procter, Melinda Mao, Rong Burda, Patricie Strambo, Davide Kuntzer, Thierry Tran, Christel |
author_facet | Van Winckel, Géraldine Ballhausen, Diana Wolf, Barry Procter, Melinda Mao, Rong Burda, Patricie Strambo, Davide Kuntzer, Thierry Tran, Christel |
author_sort | Van Winckel, Géraldine |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7649240 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-76492402020-11-13 Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy Van Winckel, Géraldine Ballhausen, Diana Wolf, Barry Procter, Melinda Mao, Rong Burda, Patricie Strambo, Davide Kuntzer, Thierry Tran, Christel Front Neurol Neurology 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. Frontiers Media S.A. 2020-10-26 /pmc/articles/PMC7649240/ /pubmed/33192963 http://dx.doi.org/10.3389/fneur.2020.516799 Text en Copyright © 2020 Van Winckel, Ballhausen, Wolf, Procter, Mao, Burda, Strambo, Kuntzer and Tran. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Van Winckel, Géraldine Ballhausen, Diana Wolf, Barry Procter, Melinda Mao, Rong Burda, Patricie Strambo, Davide Kuntzer, Thierry Tran, Christel Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy |
title | Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy |
title_full | Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy |
title_fullStr | Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy |
title_full_unstemmed | Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy |
title_short | Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy |
title_sort | severe distal motor involvement in a non-compliant adult with biotinidase deficiency: the necessity of life-long biotin therapy |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7649240/ https://www.ncbi.nlm.nih.gov/pubmed/33192963 http://dx.doi.org/10.3389/fneur.2020.516799 |
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