Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. Issue 8 (6th November 2006)

• Record Type: Journal Article
• Authors: Bok, Levinus A; Struys, Eduard; Willemsen, Michel A A P; Been, Jasper V; Jakobs, Cornelis
• Is Part Of: Archives of disease in childhood. Volume 92:Issue 8(2007)
• Page Start: 687
• Page End: 689
• Publication Date: 2006-11-06
• Subjects: α-AASA, α-aminoadipic semialdehyde -- PA, pipecolic acid -- PDS, pyridoxine-dependent seizures -- P5P, pyridoxal-5-phosphate -- P6C, piperideine-6-carboxylate; Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.2006.103192
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : 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 clinically definite PDS, and in most patients with probable or possible PDS, the clinical diagnosis of PDS could be confirmed at the metabolite level. Non-invasive urinary screening for α-AASA accumulation provides a reliable tool to diagnose PDS and can save these patients from the classical and potentially dangerous pyridoxine withdrawal test to prove PDS.