Bok Levinus A, Struys Eduard, Willemsen Michel A A P, Been Jasper V, Jakobs Cornelis
Department of Paediatrics, Máxima Medical Center, Veldhoven, The Netherlands.
Arch Dis Child. 2007 Aug;92(8):687-9. doi: 10.1136/adc.2006.103192. Epub 2006 Nov 6.
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.
We studied urinary and plasma alpha-AASA and PA levels in 12 Dutch clinically diagnosed patients with PDS.
Alpha-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.
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 alpha-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.
维生素B6依赖型癫痫（PDS）是一种罕见的常染色体隐性遗传疾病。最近，α-氨基己二酸半醛（α-AASA）脱氢酶缺乏被确定为PDS的主要病因，该病因导致α-AASA和哌啶酸（PA）在体液中蓄积。
我们研究了12例荷兰临床诊断为PDS的患者尿液和血浆中的α-AASA及PA水平。
10例患者尿液和血浆中的α-AASA均升高。这些患者血浆PA水平也升高，但尿液PA水平正常。
在所有临床确诊的PDS患者以及大多数可能或疑似PDS的患者中，PDS的临床诊断均可在代谢物水平得到证实。对α-AASA蓄积进行非侵入性尿液筛查为诊断PDS提供了一种可靠的工具，可使这些患者免于进行经典且有潜在危险的维生素B6撤药试验来确诊PDS。
