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EC Number Application Commentary Reference
Show all pathways known for 1.2.1.31Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.31medicine alpha-AASA dehydrogenase deficiency results in pyridoxine dependent epilepsy. Patients show pathogenic mutations in the ALDH7A1 gene. Increase of alpha-AASA in urine of patients with alpha-AASA dehydrogenase deficiency makes this biomarker preferable towards the measurement of pipecolic acid, which shows non-specificity 694191
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