Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
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DOI：
10.1016/j.ymgme.2009.09.008
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发表时间：
2010-02
影响因子：
3.8
通讯作者：
Diaz, George A.
中科院分区：
文献类型：
--
作者：
Weisfeld-Adams, James D.;Morrissey, Mark A.;Kirmse, Brian M.;Salveson, Bobbie R.;Wasserstein, Melissa P.;McGuire, Peter J.;Sunny, Sherlykutty;Cohen-Pfeffer, Jessica L.;Yu, Chunli;Caggana, Michele;Diaz, George A.
钴胺素C（cblC）型甲基丙二酸尿症和高胱氨酸尿症的结合是一种遗传性维生素B12代谢障碍，由MMAHC突变引起。CblC通常在新生儿期出现，伴有神经功能恶化、发育不良、血细胞减少和多系统病理学，包括肾功能和肝功能障碍。罕见的是，受影响的个体在成年期出现步态共济失调和认知能力下降。羟钴胺治疗可改善早发性疾病的临床特征，预防临床迟发性疾病。丙酸血症（PA）、甲基丙二酸血症（MMA）和各种钴胺素代谢障碍的特征在于新生儿筛查（NBS）中丙酰肉碱（C3）升高。可以通过二次分析物检测区分这些疾病。甲硫氨酸升高已被常规用作胱硫醚合酶缺乏的NBS标志物。我们建议，低蛋氨酸可能是有用的，作为一个二级分析物的cbl疾病之间的一个较大的游泳池与NBS的C3升高的婴儿特异性检测。对经分子学证实的cblC疾病患者的干血斑（DBS）数据进行回顾性分析。2005年至2008年期间出生于纽约的10例确诊cblC患者中有9例的NBS蛋氨酸低于13.4 μmol/L。升高的C3、升高的C3：C2比率和低甲硫氨酸被纳入一种简单的筛查算法，该算法可用于提高新生儿筛查程序的特异性，并提供一种特异性和新颖的方法，在召回进行确证性测试之前将cblC与其他丙酸代谢疾病区分开。预计该算法将有助于钴胺素C、D和F疾病的早期和特异性检测，而不需要NBS实验室筛查有机酸和经典同型胱氨酸尿症的额外费用。
Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B12 metabolism caused by mutations in MMACHC. CblC typically presents in the neonatal period with neurological deterioration, failure to thrive, cytopenias, and multisystem pathology including renal and hepatic dysfunction. Rarely, affected individuals present in adulthood with gait ataxia and cognitive decline. Treatment with hydroxycobalamin may ameliorate the clinical features of early-onset disease and prevent clinical late-onset disease. Propionic acidemia (PA), methylmalonic acidemia (MMA), and various disorders of cobalamin metabolism are characterized by elevated propionylcarnitine (C3) on Newborn Screening (NBS). Distinctions can be made between these disorders with secondary analyte testing. Elevated methionine is already routinely used as a NBS marker for cystathionine ß-synthase deficiency. We propose that low methionine may be useful as a secondary analyte for specific detection of cbl disorders among a larger pool of infants with elevated C3 on NBS. Retrospective analysis of dried blood spot (DBS) data in patients with molecularly confirmed cblC disease. 9 out of 10 patients with confirmed cblC born in New York between 2005 and 2008 had methionine below 13.4 μmol/L on NBS. Elevated C3, elevated C3:C2 ratio, and low methionine were incorporated into a simple screening algorithm that can be used to improve the specificity of newborn screening programs and provide a specific and novel method of distinguishing cblC from other disorders of propionate metabolism prior to recall for confirmatory testing. It is anticipated that this algorithm will aid in early and specific detection of cobalamin C, D, and F diseases, with no additional expense to NBS laboratories screening for organic acidemias and classical homocystinuria.
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影响因子：
4.2
作者：
Lindner, M.;Ho, S.;Burgard, P.
通讯作者：
Burgard, P.
影响因子：
158.5
作者：
Wilcken, B;Wiley, V;Carpenter, K
通讯作者：
Carpenter, K
影响因子：
4.2
作者：
Matern, D.;Tortorelli, S.;Rinaldo, P.
通讯作者：
Rinaldo, P.
DOI：
10.1073/pnas.0805989105
发表时间：
2008-09-23
影响因子：
11.1
作者：
Kim, Jihoe;Gherasim, Carmen;Banerjee, Ruma
通讯作者：
Banerjee, Ruma
影响因子：
3.6
作者：
Leonard, JV;Vijayaraghavan, S;Walter, JH
通讯作者：
Walter, JH