Biotinidase deficiency in the second decade with atypical neuroimaging findings

Biotinidase deficiency in the second decade with atypical neuroimaging findings

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 afte...

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Bibliographic Details
Main Authors: Vykuntaraju K Gowda, Amit Avaragollapuravarga Mathada, Varunvenkat M Srinivasan, Dhananjaya K Vamyanmane
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2023-01-01
Series:Advanced Biomedical Research
Subjects:
biotin
biotinidase deficiency
btd gene variants
enzyme activity
neonatal screening
Online Access:http://www.advbiores.net/article.asp?issn=2277-9175;year=2023;volume=12;issue=1;spage=148;epage=148;aulast=Gowda

Internet

http://www.advbiores.net/article.asp?issn=2277-9175;year=2023;volume=12;issue=1;spage=148;epage=148;aulast=Gowda

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