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首页> 外文会议>American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics >Characterizing blood disease markers in neonates with cerebrotendinous xanthomatosis; a step toward newborn screening for this neurodegenerative bile acid disorder
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Characterizing blood disease markers in neonates with cerebrotendinous xanthomatosis; a step toward newborn screening for this neurodegenerative bile acid disorder

机译：用脑血管瘤症表征新生儿的血液疾病标志物;新生儿筛查这种神经变性胆汁酸病症的一步

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Cerebrotendinous xanthomatosis (CTX) is a disorder of bile acid (BA) synthesis that, left untreated, can cause irreversib le neurological damage, developmen tal and cognitive disability, and premature death. The prevalence of CTX in the US is estimated to be >1:50,000; predicting at minimum 6,000 affected individuals. CTX is therefore almost certainly severely under- or misdiagnosed with treated patients in the US numbe ring <100. As an effective treatment for CTX is available, the value of diagnosing this disorder early cannot be overstated, optimally by screening every newborn for CTX shortly after birth. Unfortuna tely there is no filter-paper dried blood spot (DBS) newborn screening test available for CTX. We set out to characterize the ketosterol BA precursors that accumulate in CTX in DBS from affected newborns.
机译：脑敏感的织花玉米症（CTX）是一种胆汁酸（BA）合成的疾病，留下未经处理的含量，可导致Irreversib Le神经损伤，发育算法和认知残疾，以及过早死亡。估计美国CTX的患病率为> 1：50,000;预测至少6,000个受影响的个人。因此，CTX几乎肯定会受到美国NUMBE环中治疗患者的严重影响或误诊。作为对CTX的有效治疗可用，早期诊断该病症的价值不能夸大，通过在出生后不久筛选每种新生儿对CTX的每一个新生儿。不幸的是没有滤纸干血斑（DBS）用于CTX的新生儿筛查试验。我们首先表征了酮甾醇BA前体，该前体在受影响的新生儿中累积在DBS中的CTX中。

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