Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency

Wolf, Barry

doi:10.1177/2055217320923131

Multiple Sclerosis Journal - Experimental, Translational and Cl

2020

DOI: 10.1177/2055217320923131

|View full text |Cite

Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency

Barry Wolf

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2022

2024

Publication Types

Select...

Article2

Relationship

Self Cite0

Independent2

Authors

Journals

Cited by 2 publications

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature

Abdi,

Parvin,

Zare Hosseinabadi

et al. 2024

Ophthalmic Genetics

View full text Add to dashboard Cite

Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature

Abdi,

Parvin,

Zare Hosseinabadi

et al. 2024

Ophthalmic Genetics

View full text Add to dashboard Cite

A Girl with Myelopathy and Vision Loss, Misdiagnosis as Neuromyelitis Optica Spectrum Disorder: The First Iranian Case Report on Biotinidase Deficiency

nasehi,

Karimzadeh,

Tabrizi

et al. 2022

Iran J Pediatr

View full text Add to dashboard Cite

Introduction: Biotinidase (BTD) deficiency may lead to variable neurologic manifestations. Spinal cord involvement can be an unusual presentation of the late-onset disorder. Case Presentation: We describe a six-year-and-ten-month-old girl with a previous history of recurrent upper respiratory tract infections, frequent falling four years before admission, gradual vision loss, and subacute progressive limb weakness followed by flaccid quadriplegia during admission. The measurements of cerebrospinal fluid (CSF) lactate showed significant elevation. And spinal MRI revealed longitudinally extensive cord involvement, mimicking acquired demyelinating syndrome; however, there was no response to plasma exchange. Profound biotinidase deficiency was confirmed by enzyme assay; the patient revealed dramatic recovery after the biotin prescription. The genetic analysis showed a homozygous missense variant BTD (NM_001370658.1): c.838A>C (p.Asn280His) in exon 4, thereby predicting pathogenic based on the ACMG guidelines. To the best of our knowledge, this is the first Iranian report on BTD deficiency. Conclusions: In summary, in each patient with longitudinally extensive cord involvement not well responding to the conventional treatment, BTD deficiency should be considered on differential.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency

Cited by 2 publications

References 7 publications

Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature

Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature

A Girl with Myelopathy and Vision Loss, Misdiagnosis as Neuromyelitis Optica Spectrum Disorder: The First Iranian Case Report on Biotinidase Deficiency

Contact Info

Product

Resources

About