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Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics.

Analytical biochemistry - 1 Sept 2020

Kuhara Tomiko, Akiyama Tomoyuki, Ohse Morimasa, Koike Takayoshi, Shibasaki Jun, Imai Katsumi, Cooper ArthurJ L

Abstract excerpt

α-Aminoadipic semialdehyde and its cyclic form (Δ1-piperideine-6-carboxylate) accumulate in patients with α-aminoadipic semialdehyde dehydrogenase (AASADH; antiquitin; ALDH7A1) deficiency. Δ1-Piperideine-6-carboxylate is known to react with pyridoxal 5'-phosphate (PLP) to form a Knoevenagel condensation product, resulting in pyridoxine-dependent epilepsy. Despite dramatic clinical improvement following pyridoxine...

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PMID: 32339489
DOI: 10.1016/j.ab.2020.113739

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