Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency

Pyridoxine‐dependent epilepsy (PDE) is a potentially treatable vitamin‐responsive epileptic encephalopathy. The most prevalent form of PDE is due to an underlying genetic defect in ALDH7A1 encoding Antiquitin (ATQ), an enzyme with α‐aminoadipic semialdehyde dehydrogenase (AASADH) activity which faci...

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Detalles Bibliográficos
Autores principales: Kava, Maina P., Bryant, Leah, Rowe, Peter, Lewis, Barry, Greed, Lawrence, Balasubramaniam, Shanti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358673/
https://www.ncbi.nlm.nih.gov/pubmed/32685344
http://dx.doi.org/10.1002/jmd2.12121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358673/
https://www.ncbi.nlm.nih.gov/pubmed/32685344
http://dx.doi.org/10.1002/jmd2.12121

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