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Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.
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.
Afiliación
  • McGraw CM; Epilepsy, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Mahida S; Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA.
  • Jayakar P; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Koh HY; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Taylor A; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, Florida, USA.
  • Resnick T; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Rodan L; Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Schwartz MA; Al Jalila Children's Hospital, Dubai, United Arab Emirates.
  • Ejaz A; Division of Pediatric Neurology, Miami Children's Hospital, Miami, Florida, USA.
  • Sankaran VG; Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA.
  • Berry G; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Poduri A; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
Ann Clin Transl Neurol ; 8(3): 716-722, 2021 03.
Article en En | MEDLINE | ID: mdl-33497533
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aspartato Carbamoiltransferasa / Uridina / Carbamoil-Fosfato Sintasa (Glutamina-Hidrolizante) / Dihidroorotasa / Epilepsia Refractaria Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Clin Transl Neurol Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aspartato Carbamoiltransferasa / Uridina / Carbamoil-Fosfato Sintasa (Glutamina-Hidrolizante) / Dihidroorotasa / Epilepsia Refractaria Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ann Clin Transl Neurol Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos