Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels
Background: Pyridoxine-dependent seizures (PDS) is a rare, autosomal recessively inherited disorder. Recently α-aminoadipic semialdehyde (α-AASA) dehydrogenase deficiency was identified as a major cause of PDS, which causes accumulation of both α-AASA and pipecolic acid (PA) in body fluids. Methods: We studied urinary and plasma α-AASA and PA levels in 12 Dutch clinically diagnosed patients with PDS. Results: α-AASA was elevated in both urine and plasma in 10 patients. In these patients plasma PA levels were also elevated but urinary PA levels were normal. Discussion: In all patients with clin... Mehr ...
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Dokumenttyp: | TEXT |
Erscheinungsdatum: | 2007 |
Verlag/Hrsg.: |
BMJ Publishing Group Ltd
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Schlagwörter: | Original articles |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26632081 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://adc.bmj.com/cgi/content/short/92/8/687 |