Late-onset cobalamin-C disorder: A challenging diagnosis
Late-onset cobalamin-C disorder: A challenging diagnosis
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DOI：
10.1002/ajmg.a.31671
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发表时间：
2007-05-01
影响因子：
2
通讯作者：
Feigenbaum, Annette
中科院分区：
文献类型：
--
作者：
Ben-Omran, Tawfeg I.;Wong, Hubert;Feigenbaum, Annette
钴胺素-C（cblC）病是一种罕见的常染色体隐性遗传疾病，由于细胞内钴胺素代谢缺陷。有少数（13）报告的晚发性cblC疾病的患者缺乏详细的临床描述。这导致这种情况很容易被忽视。在这份报告中，我们描述了两个不相关的晚发性cblC疾病患者的临床和生化结果，他们表现出神经精神症状。为其中一名患者提供了系列MRI图像。通过尿和血浆生化标记物进行推定诊断，并通过成纤维细胞分析确认。这些患者说明了这种疾病的诊断具有挑战性，并报告了血管病变和线粒体呼吸链功能障碍的罕见相关发现。MMAHC基因突变分析显示，两名患者均为394 C-> T纯合子，这表明存在奠基者效应。(C)2007 Wiley-Liss，Inc.
Cobalamin-C (cblC) disease is a rare autosomal recessive disorder due to defective intracellular cobalamin metabolism. There are few (13) reported patients of the late-onset presentation of cblC disease with paucity of detailed clinical descriptions. This results in this condition being easily missed. In this report, we describe clinical and biochemical findings of two unrelated patients with late-onset cblC disease who presented with neuropsychiatric symptoms. Serial MRI images are provided for one of these patients. Presumptive diagnosis was made with urine and plasma biochemical markers and confirmed with fibroblast analysis. These patients illustrate the challenging diagnosis of this disease and also report on the rare associated findings of vasculopathy and mitochondrial respiratory chain dysfunction. Mutation analysis of the MMACHC gene showed that both patients were homozygous for 394C -> T which suggests a founder effect. (C) 2007 Wiley-Liss, Inc.