医
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末梢神经炎、戒断反应、嗜睡、腹泻、婴儿需要较大量...、舌炎、抽搐、抑郁、胃肠道症状、惊厥
Pyridoxine-dependent seizure is rare autosomal recessive neonatal epilepsy resistant to anticonvulsants; requires lifelong vitamin B6; ALDH7A1 mutation.
Neonatal intractable seizures; resistant to anticonvulsants; controlled by pyridoxine; developmental delay if untreated
ALDH7A1 (antiquitin) mutation; alpha-aminoadipic semialdehyde dehydrogenase deficiency.
Lifelong pyridoxine supplementation; lysine-restricted diet; neonatal seizure workup
Neurology / pediatrics / genetics.
Warm reminder: Health education reference only; seek care at regular hospital.
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