Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings

We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For the affected girl, uridine started at age 5 resulted in dramatic improvements in seizure control and development, cessation of cerebellar atro...

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Detalles Bibliográficos
Autores principales: McGraw, Christopher M., Mahida, Sonal, Jayakar, Parul, Koh, Hyun Yong, Taylor, Alan, Resnick, Trevor, Rodan, Lance, Schwartz, Marc A., Ejaz, Ayesha, Sankaran, Vijay G., Berry, Gerard, Poduri, Annapurna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7951104/
https://www.ncbi.nlm.nih.gov/pubmed/33497533
http://dx.doi.org/10.1002/acn3.51272
Descripción
Sumario:We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For the affected girl, uridine started at age 5 resulted in dramatic improvements in seizure control and development, cessation of cerebellar atrophy, and resolution of hematological abnormalities. Her older brother had a more severe course and only modest response to uridine started at 14 years old. Treatment of this progressive condition via uridine supplementation provides an example of precision diagnosis and treatment using clear outcome measures and biomarkers to monitor efficacy.

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