Pyridoxine-dependent Epilepsy With Elevated Urinary alpha-Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency

E.A. Struijs, B. Nota, A. Bakkali, S. Al Shahwan, G.S. Salomons, B. Tabarki

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Abstract

α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition. We have recently found that the urinary excretion of α-AASA was also increased in molybdenum cofactor and sulfite oxidase deficiencies. The seizures in pyridoxine-dependent epilepsy are caused by lowered cerebral levels of pyridoxal-5-phosphate (PLP), the bioactive form of pyridoxine (vitamin B
Original languageEnglish
Pages (from-to)e1716-e1719
JournalPediatrics
Volume130
Issue number6
DOIs
Publication statusPublished - 2012

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