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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Detalles Bibliográficos
Autores principales: Gowda, Vykuntaraju K., Avaragollapuravarga Mathada, Amit, Srinivasan, Varunvenkat M., Vamyanmane, Dhananjaya K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10410414/
https://www.ncbi.nlm.nih.gov/pubmed/37564434
http://dx.doi.org/10.4103/abr.abr_98_22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10410414/
https://www.ncbi.nlm.nih.gov/pubmed/37564434
http://dx.doi.org/10.4103/abr.abr_98_22

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