Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults

D‐2‐hydroxyglutaric aciduria type 1 (D2HGA1) is a rare inherited metabolic disorder usually manifesting in infancy/early childhood with seizures and significant central nervous system involvement. We report two siblings with D2HGA1 presenting with mild intellectual disability, and the onset of seizu...

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Detalles Bibliográficos
Autores principales: Tabarestani, Sepideh, Varriano, Brenda, Rawal, Sapna, France Morel, Chantal, Carmela Tartaglia, Maria, Andrade, Danielle M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545601/
https://www.ncbi.nlm.nih.gov/pubmed/32857435
http://dx.doi.org/10.1002/acn3.51162

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545601/
https://www.ncbi.nlm.nih.gov/pubmed/32857435
http://dx.doi.org/10.1002/acn3.51162

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