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Title
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.
Authors
Bok, Levinus A; Struys, Eduard; Willemsen, Michel A A P; Been, Jasper V; Jakobs, Cornelis
Abstract
Pyridoxine-dependent seizures (PDS) is a rare, autosomal recessively inherited disorder. Recently alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency was identified as a major cause of PDS, which causes accumulation of both alpha-AASA and pipecolic acid (PA) in body fluids.
Publication
Archives of disease in childhood, 2007, Vol 92, Issue 8, p687