Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders

Research output: Contribution to journalArticle

Abstract

Background: Multiple sclerosis is a disorder of the central and peripheral nervous system of young and old adults that is characterized by muscle, coordination and vision abnormalities. Multiple sclerosis is likely due to numerous causes. Methods: Recently, adolescents and adults with ophthalmological and or neurological findings have been diagnosed with biotinidase deficiency. These individuals have exhibited myelopathy, paresis and/or spastic diplegia/tetraplegia with or without optic neuropathy/vision loss. These older individuals with biotinidase deficiency were considered initially to have multiple sclerosis or similar disorders before they were determined to have biotinidase deficiency. Results: If a symptomatic individual with biotinidase deficiency is treated with biotin early enough, the symptoms markedly improve or completely resolve, but if treatment is delayed, the symptoms may be irreversible. Conclusion: Therefore, although biotinidase deficiency is rare relative to that of multiple sclerosis, the disorder should be included in the differential diagnosis of individuals thought to have multiple sclerosis or related disorders. Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis or related disorders.

Original languageEnglish (US)
Pages (from-to)26-30
Number of pages5
JournalMultiple Sclerosis and Related Disorders
Volume28
DOIs
StatePublished - Feb 1 2019

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Biotinidase Deficiency
Multiple Sclerosis
Optic Nerve Diseases
Quadriplegia
Spinal Cord Diseases
Central Nervous System Diseases
Peripheral Nervous System Diseases
Paresis
Cerebral Palsy
Biotin
Young Adult
Differential Diagnosis
Muscles

Keywords

  • Adolescents
  • Adult
  • Biotin-responsive
  • Biotinidase deficiency
  • Enzyme testing
  • Multiple sclerosis

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

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title = "Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders",
abstract = "Background: Multiple sclerosis is a disorder of the central and peripheral nervous system of young and old adults that is characterized by muscle, coordination and vision abnormalities. Multiple sclerosis is likely due to numerous causes. Methods: Recently, adolescents and adults with ophthalmological and or neurological findings have been diagnosed with biotinidase deficiency. These individuals have exhibited myelopathy, paresis and/or spastic diplegia/tetraplegia with or without optic neuropathy/vision loss. These older individuals with biotinidase deficiency were considered initially to have multiple sclerosis or similar disorders before they were determined to have biotinidase deficiency. Results: If a symptomatic individual with biotinidase deficiency is treated with biotin early enough, the symptoms markedly improve or completely resolve, but if treatment is delayed, the symptoms may be irreversible. Conclusion: Therefore, although biotinidase deficiency is rare relative to that of multiple sclerosis, the disorder should be included in the differential diagnosis of individuals thought to have multiple sclerosis or related disorders. Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis or related disorders.",
keywords = "Adolescents, Adult, Biotin-responsive, Biotinidase deficiency, Enzyme testing, Multiple sclerosis",
author = "Barry Wolf",
year = "2019",
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language = "English (US)",
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T1 - Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders

AU - Wolf, Barry

PY - 2019/2/1

Y1 - 2019/2/1

N2 - Background: Multiple sclerosis is a disorder of the central and peripheral nervous system of young and old adults that is characterized by muscle, coordination and vision abnormalities. Multiple sclerosis is likely due to numerous causes. Methods: Recently, adolescents and adults with ophthalmological and or neurological findings have been diagnosed with biotinidase deficiency. These individuals have exhibited myelopathy, paresis and/or spastic diplegia/tetraplegia with or without optic neuropathy/vision loss. These older individuals with biotinidase deficiency were considered initially to have multiple sclerosis or similar disorders before they were determined to have biotinidase deficiency. Results: If a symptomatic individual with biotinidase deficiency is treated with biotin early enough, the symptoms markedly improve or completely resolve, but if treatment is delayed, the symptoms may be irreversible. Conclusion: Therefore, although biotinidase deficiency is rare relative to that of multiple sclerosis, the disorder should be included in the differential diagnosis of individuals thought to have multiple sclerosis or related disorders. Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis or related disorders.

AB - Background: Multiple sclerosis is a disorder of the central and peripheral nervous system of young and old adults that is characterized by muscle, coordination and vision abnormalities. Multiple sclerosis is likely due to numerous causes. Methods: Recently, adolescents and adults with ophthalmological and or neurological findings have been diagnosed with biotinidase deficiency. These individuals have exhibited myelopathy, paresis and/or spastic diplegia/tetraplegia with or without optic neuropathy/vision loss. These older individuals with biotinidase deficiency were considered initially to have multiple sclerosis or similar disorders before they were determined to have biotinidase deficiency. Results: If a symptomatic individual with biotinidase deficiency is treated with biotin early enough, the symptoms markedly improve or completely resolve, but if treatment is delayed, the symptoms may be irreversible. Conclusion: Therefore, although biotinidase deficiency is rare relative to that of multiple sclerosis, the disorder should be included in the differential diagnosis of individuals thought to have multiple sclerosis or related disorders. Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis or related disorders.

KW - Adolescents

KW - Adult

KW - Biotin-responsive

KW - Biotinidase deficiency

KW - Enzyme testing

KW - Multiple sclerosis

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