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Biotinidase deficiency in the second decade with atypical neuroimaging findings

التفاصيل البيبلوغرافية
العنوان: Biotinidase deficiency in the second decade with atypical neuroimaging findings
المؤلفون: Vykuntaraju K Gowda, Amit Avaragollapuravarga Mathada, Varunvenkat M Srinivasan, Dhananjaya K Vamyanmane
المصدر: Advanced Biomedical Research, Vol 12, Iss 1, Pp 148-148 (2023)
بيانات النشر: Wolters Kluwer Medknow Publications, 2023.
سنة النشر: 2023
المجموعة: LCC:Medicine
LCC:Biology (General)
مصطلحات موضوعية: biotin, biotinidase deficiency, btd gene variants, enzyme activity, neonatal screening, Medicine, Biology (General), QH301-705.5
الوصف: Biotinidase deficiency is a rare autosomal recessive neurometabolic disorder resulting in biotin deficiency. Our patient presented with seizures and developmental delay since infancy and was started on megavitamin supplements. At 14 years, she presented with motor regression with encephalopathy after discontinuation of vitamins. There were no skin and hair changes. Magnetic resonance imaging (MRI) of the brain showed bilateral symmetrical posterior putamen signal changes. Tandem mass spectroscopy showed increased methyl malonyl carnitine and 3-OH isovaleryl carnitine. There was a low biotinidase level, and a pathogenic variant in the BTD gene in the next-generation sequencing was identified. Special importance is placed on the unusual symmetric posterior putamen involvement seen in MRI of the brain.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2277-9175
Relation: http://www.advbiores.net/article.asp?issn=2277-9175;year=2023;volume=12;issue=1;spage=148;epage=148;aulast=Gowda; https://doaj.org/toc/2277-9175
DOI: 10.4103/abr.abr_98_22
URL الوصول: https://doaj.org/article/02e9bf0368154b1d83679cbc13d876c3
رقم الأكسشن: edsdoj.02e9bf0368154b1d83679cbc13d876c3
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:22779175
DOI:10.4103/abr.abr_98_22