Abstract |
Pyridoxine-dependent epilepsy (PDE) is a recessive genetic disease characterized by epileptic encephalopathy with therapeutic response to pharmacological doses of pyridoxine and resistance to anti-epileptic treatments. The recent discovery in 2006 of the genetic defect antiquitin (ALDH7A1, OMIM #266100) has helped to understand the underlying mechanism, which is the accumulation of neurotoxic intermediates in the lysine catabolic pathway. The goal of the new therapeutic approach, termed triple therapy (TT) ( pyridoxine, lysine-restricted diet and arginine supplementation), is to improve epilepsy control and neurocognitive development in patients with PDE. We present the 3-year treatment outcome for a child with PDE on pyridoxine treatment (started at age 5 months), lysine-restricted diet (started at age 17 months) and arginine supplementation therapy (started at age 19 months). The TT was well-tolerated with good compliance. No adverse events were reported. We observed a neurodevelopmental improvement, significantly fewer seizures, and a reduction of pipecolic acid (PA) as a biomarker of the illness. Our results show an improving clinical evolution, supporting and extending previous studies reporting efficacy of TT.
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Authors | Perrine Minet, Catherine Sarret, Ania Miret, Karine Mention, Jean François Benoist, Ganaelle Remerand |
Journal | Acta neurologica Belgica
(Acta Neurol Belg)
Vol. 121
Issue 6
Pg. 1669-1675
(Dec 2021)
ISSN: 2240-2993 [Electronic] Italy |
PMID | 33113107
(Publication Type: Case Reports, Journal Article)
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Copyright | © 2020. Belgian Neurological Society. |
Chemical References |
- Biomarkers
- Pipecolic Acids
- Arginine
- pipecolic acid
- Lysine
- Pyridoxine
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Topics |
- Arginine
(administration & dosage)
- Biomarkers
(blood)
- Child, Preschool
- Dietary Supplements
- Epilepsy
(blood, diagnostic imaging, diet therapy)
- Female
- Humans
- Lysine
(deficiency)
- Pipecolic Acids
(blood)
- Pyridoxine
(administration & dosage)
- Treatment Outcome
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