Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.
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DOI：
10.1016/j.ymgme.2016.02.002
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发表时间：
2016-05
影响因子：
3.8
通讯作者：
Inborn Errors of Metabolism Collaborative
中科院分区：
文献类型：
--
作者：
Forsyth R;Vockley CW;Edick MJ;Cameron CA;Hiner SJ;Berry SA;Vockley J;Arnold GL;Inborn Errors of Metabolism Collaborative
3-甲基巴豆酰辅酶A羧化酶（3 MCC）缺乏症是一种先天性亮氨酸代谢缺陷，随着新生儿筛查的扩大，其检测率也在增加。虽然大多数NBS确定的婴儿在临床上表现正常，但先前的研究表明，发育或代谢异常的风险可能会增加。到目前为止，还没有已知的预测标志物可以识别有生化或发育异常风险的儿童。对通过先天性代谢缺陷信息系统（IBEM-IS）中新生儿筛查诊断的所有可用3-MCC病例进行了审查，以确定可能预测结局的标志物。有限数量的病例被确定为具有传统的生化症状，包括酸中毒、高氨血症或乳酸酸中毒，15%具有可用发育信息的病例记录了发育障碍，但未明确归因于其他原因。在这些病例中，新生儿筛查（NBS）C5 OH水平与代谢、新生儿、后期生活或发育异常之间没有相关性。该样本来自IBEM-IS数据库，试图避免回顾性研究中存在的一些确定性偏倚。尽管没有特异性生化标志物预测结果，但发育异常和传统代谢症状的增加仍然明显。预防禁食在结果中所起的作用尚不能确定。这些数据表明，新生儿筛查中发现的C5 OH水平本身不足以用于诊断或预测目的。
3-Methyl crotonyl CoA carboxylase (3MCC) deficiency is an inborn error of leucine metabolism whose detection was increased with the advent of expanded newborn screening. While most NBS-identified infants appear clinically normal, prior studies suggest a possible increased risk for developmental or metabolic abnormalities. As yet, no predictive markers are known that can identify children at risk for biochemical or developmental abnormalities. All available 3-MCC cases diagnosed by newborn screening in the Inborn Errors of Metabolism Information System (IBEM-IS) were reviewed for markers that might be predictive of outcome. A limited number of cases were identified with traditional biochemical symptoms including acidosis, hyperammonemia or lactic acidosis, and 15% of those with available developmental information had recorded developmental disabilities not clearly attributable to other causes. There was no correlation between newborn screening (NBS) C5OH level and presence of metabolic, newborn, later-life or developmental abnormalities in these cases. This sample, obtained from the IBEM-IS database, attempts to avoid some of the ascertainment bias present in retrospective studies. An increase in developmental abnormalities and in traditionally described metabolic symptoms remains apparent, although no specific biochemical markers appear predictive of outcome. The role that prevention of fasting plays in outcome cannot be ascertained. These data suggest that C5OH level found on newborn screening by itself is not sufficient for diagnostic or predictive purposes.
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