A teenager with combined methylmalonic aciduria and homocystinuria (CblC type) presenting with neurological symptoms and congenital heart diseases: a case report.

IF 0.6 4区医学 Q4 CLINICAL NEUROLOGY Neurocase Pub Date : 2022-08-01 Epub Date: 2022-10-11 DOI:10.1080/13554794.2022.2132870

Li Zhou, Qin Yang

引用次数: 1

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.

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青少年合并甲基丙二酸尿和同型半胱氨酸尿(CblC型)表现为神经系统症状和先天性心脏病:1例报告。

甲基丙二酸血症和同型半胱氨酸尿，是一种罕见的常染色体隐性遗传病，由于缺陷的细胞内钴胺素代谢。我们报告一位18岁的中国男性，他表现为肌强直、癫痫发作和先天性心脏病。突变分析显示MMACHC基因c.365A>T和c.482 G>A突变，诊断为甲基丙二酸尿和同型半胱氨酸尿(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指标均有所改善。本病例强调，对于出现挑战性或神经系统症状的青少年，特别是合并不明原因的心脏病时，应考虑先天性代谢错误。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurocase 医学-精神病学

CiteScore

1.40

自引率

12.50%

发文量

审稿时长

6-12 weeks

期刊介绍： Neurocase is a rapid response journal of case studies and innovative group studies in neuropsychology, neuropsychiatry and behavioral neurology that speak to the neural basis of cognition. Four types of manuscript are considered for publication: single case investigations that bear directly on issues of relevance to theoretical issues or brain-behavior relationships; group studies of subjects with brain dysfunction that address issues relevant to the understanding of human cognition; reviews of important topics in the domains of neuropsychology, neuropsychiatry and behavioral neurology; and brief reports (up to 2500 words) that replicate previous reports dealing with issues of considerable significance. Of particular interest are investigations that include precise anatomical localization of lesions or neural activity via imaging or other techniques, as well as studies of patients with neurodegenerative diseases, since these diseases are becoming more common as our population ages. Topic reviews are included in most issues.