Stability of 5-aminolevulinic acid on dried urine filter paper for a diagnostic marker of tyrosinemia type I

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• 作者：Toshihiro Shinka ; Morimasa Ohse ; Yoshito Inoue and Tomiko Kuhara
• 关键词：5-Aminolevulinate ; GC/MS analysis ; Tyrosinemia type I ; Dried urine filter paper
• 刊名：Journal of Chromatography B ; Analytical Technologies in the Biomedical and Life Sciences
• 出版年：2005
• 期刊代码：124_15700232
• 类别：ch
• 出版时间：2005
• 卷：823
• 期：1
• 页码：44-46
• 文件大小：112 K

摘要

The chemical diagnosis of tyrosinemia type I generally involves the detection of succinylacetone (SA) in patient urine. However, 5-aminolevulinate (5ALA), which accumulates due to succinylacetone's inhibition of porphyrin synthesis, can also be used as diagnostic metabolites. Here we examined the stabilities of these markers on dried urine filter paper. After two weeks at room temperature, the succinylacetone was 10%of its original level, but over 80%of 5-aminolevulinate remained. Thus, although insufficient succinylacetone was recovered from dried urine filter paper to diagnose tyrosinemia type I, 5-aminolevulinate was readily detected, permitting the diagnosis.