Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect

Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding α-aminoadipic-semialdehyde-dehydrogenase enzyme in the lysine catabolic pathway resulting in an accumulation of α-aminoadipic-acid-semialdehyde (α-AASA). We present the one-year treatment outcome of...

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Detalles Bibliográficos
Autores principales: Mercimek-Mahmutoglu, Saadet, Corderio, Dawn, Nagy, Laura, Mutch, Carly, Carter, Melissa, Struys, Eduard, Kyriakopoulou, Lianna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121319/
https://www.ncbi.nlm.nih.gov/pubmed/27896080
http://dx.doi.org/10.1016/j.ymgmr.2014.02.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121319/
https://www.ncbi.nlm.nih.gov/pubmed/27896080
http://dx.doi.org/10.1016/j.ymgmr.2014.02.001

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