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

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

Abstract 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 w...

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Bibliographic Details
Main Authors: Maina P. Kava, Leah Bryant, Peter Rowe, Barry Lewis, Lawrence Greed, Shanti Balasubramaniam
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:JIMD Reports
Subjects:
antiquitin
lysine restriction
neurological improvements
pyridoxine‐dependent epilepsy
α‐aminoadipic semialdehyde dehydrogenase
Online Access:https://doi.org/10.1002/jmd2.12121

Internet

https://doi.org/10.1002/jmd2.12121

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