Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
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DOI：
10.1007/s10545-011-9365-x
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发表时间：
2012-01
影响因子：
4.2
通讯作者：
Venditti, Charles P.
中科院分区：
文献类型：
--
作者：
Carrillo-Carrasco, Nuria;Venditti, Charles P.
甲基丙二酸血症和同型半胱氨酸尿症联合（cblC 型）被认为是细胞内钴胺素代谢最常见的先天性错误。这种疾病可以表现出广泛的临床表现，从产前时期一直到成年晚期。虽然同型半胱氨酸浓度升高和甲基代谢受损可能会导致疾病相关并发症，但在许多受影响的患者中观察到的特征性黄斑和视网膜变性似乎是 cblC 疾病所特有的。通过新生儿筛查早期发现 cblC 疾病需要仔细评估治疗方法，并为改善受影响患者的治疗结果提供新的机会。以下文章回顾了当前关于 cblC 疾病的并发症、病理生理学和结果的知识，以更好地指导临床实践和未来的治疗试验。
Combined methylmalonic acidemia and homocystinuria, cblC type, is stated to be the most common inborn error of intracellular cobalamin metabolism. The disorder can display a wide spectrum of clinical manifestations, spanning the prenatal period through late adulthood. While increased homocysteine concentrations and impaired methyl group metabolism may contribute to disease-related complications, the characteristic macular and retinal degeneration seen in many affected patients appears to be unique to cblC disease. The early detection of cblC disease by newborn screening mandates a careful assessment of therapeutic approaches and provides a new opportunity to improve the outcome of affected patients. The following article reviews the current knowledge on the complications, pathophysiology, and outcome of cblC disease in an effort to better guide clinical practice and future therapeutic trials.
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