A teenager with combined methylmalonic aciduria and homocystinuria (CblC type) presenting with neurological symptoms and congenital heart diseases: a case report
A teenager with combined methylmalonic aciduria and homocystinuria (CblC type) presenting with neurological symptoms and congenital heart diseases: a case report
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DOI：
10.1080/13554794.2022.2132870
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发表时间：
2022-07
期刊：
影响因子：
0.8
通讯作者：
Li Zhou;Qin Yang
中科院分区：
文献类型：
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作者：
Li Zhou;Qin Yang
摘要甲基丙二酸血症合并高胱氨酸尿症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。我们报告一位18岁的中国男性，以肌张力过强、癫痫发作及先天性心脏病来表现。突变分析显示MMAHC基因中的c.365 A>T和c.482 G>A突变，诊断为甲基丙二酸尿症和同型胱氨酸尿症（CblC型）。经维生素B12、左旋肉碱、甜菜碱和叶酸治疗后，其临床症状和实验室检查值均有所改善。这个病例强调，先天性代谢缺陷应考虑青少年提出的挑战或神经症状，特别是当结合不明原因的心脏病。
ABSTRACT Combined methylmalonic acidemia and homocystinuria, is a rare autosomal recessive disorder due to defective intracellular cobalamin metabolism. We report an 18-year-old Chinese male who presented with hypermyotonia, seizures, and congenital heart diseases. Mutation analysis revealed c.365A>T and c.482 G>A mutations in the MMACHC gene, diagnosed with methylmalonic aciduria and homocystinuria (CblC type). After treatment with vitamin B12, L-carnitine, betaine, and folate, which resulted in an improvement in his clinical symptoms and laboratory values. This case emphasizes that inborn errors of metabolism should be considered for a teenager presenting with challenging or neurologic symptoms, especially when combined with unexplained heart diseases.