Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine
Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine
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DOI：
10.1007/s10545-007-0590-2
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发表时间：
2007-10-01
影响因子：
4.2
通讯作者：
Jakobs, C.
中科院分区：
文献类型：
--
作者：
Wamelink, M. M.;Smith, D. E.;Jakobs, C.
转醛醇酶缺乏症是最近发现的一种多系统受累的碳水化合物代谢紊乱，已诊断出6例患者。受影响的患者体液中的多元醇浓度异常，我们之前在所有患者中都发现了七碳链碳水化合物的数量增加，我们怀疑这是七碳七糖。建立了一种测定尿液中七碳碳水化合物七碳七糖和甘露七糖的高效液相色谱-串联质谱法。此外，尿液中还含有其他七碳碳链碳水化合物，包括七碳糖醇、长发糖醇和七碳硫糖7-磷酸。转醛醇酶缺乏的患者显著增加了尿七糖和七糖7-磷酸，并伴随着甘露七糖、七醇和葡萄糖醇的轻微升高。我们的发现揭示了用于鉴定转醛醇酶缺乏症的新的尿液生物标志物。
Transaldolase deficiency, a recently discovered disorder of carbohydrate metabolism with multisystem involvement, has been diagnosed in 6 patients. Affected patients have abnormal concentrations of polyols in body fluids and in all patients we have previously found increased amounts of a seven-carbon chain carbohydrate which we suspected of being sedoheptulose. We report development of a liquid chromatography-tandem mass spectrometry method for quantitation of the seven-carbon carbohydrates sedoheptulose and mannoheptulose in urine. Additionally, other seven-carbon chain carbohydrates were characterized in urine, including sedoheptitol, perseitol and sedoheptulose 7-phosphate. Transaldolase-deficient patients had significantly increased urinary sedoheptulose and sedoheptulose 7-phosphate, associated with subtle elevations of mannoheptulose, sedoheptitol and perseitol. Our findings reveal novel urinary biomarkers for identification of transaldolase deficiency.