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

作者全名："Zhou, Li; Yang, Qin"

作者地址："[Zhou, Li; Yang, Qin] Chongqing Med Univ, Dept Neurol, Affiliated Hosp 1, 1 Youyi Rd, Chongqing 400016, Peoples R China"

通信作者："Yang, Q (通讯作者)，Chongqing Med Univ, Dept Neurol, Affiliated Hosp 1, 1 Youyi Rd, Chongqing 400016, Peoples R China."

来源：NEUROCASE

ESI学科分类：NEUROSCIENCE & BEHAVIOR

WOS号：WOS:000866075000001

JCR分区：Q4

影响因子：0.8

年份：2022

卷号：28

期号：4

开始页：388

结束页：392

文献类型：Article

关键词：Cobalamin C deficiency; MMACHC; methylmalonic aciduria; homocysteinemia; late-onset

摘要："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 B-12, 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."

基金机构："National Natural Science Foundation of China [81671309, 81971229]"

基金资助正文：The work was supported by the National Natural Science Foundation of China to Qin Yan [81671309 and 81971229].