Results 1 to 10 of about 1,126 (118)

Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Cobalamin (cbl) C is a treatable rare hereditary disorder of cbl metabolism with autosomal recessive inheritance. It is the most common organic acidemia, manifested as methylmalonic academia combined with homocysteinemia.
Chao Wang, Yang Liu, Fengying Cai, Xinjie Zhang, Xiaowei Xu, Yani Li, Qianqian Zou, Jie Zheng, Yuqin Zhang, Wei Guo, Chunquan Cai, Jianbo Shu   +11 more
doaj   +3 more sources

Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene [PDF]

Frontiers in Neurology, 2022
Methylmalonic acidemia is a severe heterogeneous disorder of methylmalonate and cobalamin (Cbl; vitamin B12) metabolism with poor prognosis. Around 90% of reported patients with methylmalonic acidemia (MMA) are severe infantile early onset, while cases ...
Shengnan Wang, Xu Wang, Jianxin Xi, Wenzhuo Yang, Mingqin Zhu   +4 more
doaj   +2 more sources

Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations [PDF]

Frontiers in Genetics, 2022
Noninvasive prenatal testing (NIPT) for monogenic disorders has been developed in recent years; however, there are still significant technical and analytical challenges for clinical use.
Weigang Lv, Lili Liang, Xin Chen, Zhuo Li, Desheng Liang, Huimin Zhu, Yanling Teng, Weijuan Wu, Lingqian Wu, Lianshu Han   +9 more
doaj   +2 more sources

Epimutation of MMACHC compound to a genetic mutation in cblC cases

Molecular Genetics & Genomic Medicine, 2021
Background Methylmalonic aciduria (MMA) combined with homocystinuria, cobalamin(cbl)C deficiency type (OMIM 277400), is the most common autosomal recessive inherited disorder of intracellular cobalamin metabolism caused by mutations in the MMACHC gene ...
Xiaoman Zhang, Qiong Chen, Yinsen Song, Pengbo Guo, Yanhong Wang, Shuying Luo, Yaodong Zhang, Chongchen Zhou, Dongxiao Li, Yongxing Chen, Haiyan Wei   +10 more
doaj   +2 more sources

Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant [PDF]

Clinical Epigenetics
Mutations in the MMACHC gene lead to autosomal recessive combined methylmalonic aciduria and homocystinuria (cblC type). Additionally, specific mutations in the downstream, inversely oriented PRDX1 gene that result in aberrant PRDX1 transcripts ...
Martina Škopková, Pavlína Kabelíková, Andrea Andrésová, Katarína Brennerová, Silvia Dallemule, Miroslav Sabo, Róbert Petrovič, Daniela Gašperíková   +7 more
doaj   +2 more sources

Analysis of homocysteine levels in carriers with MMACHC gene variants [PDF]

Orphanet Journal of Rare Diseases
Objective Variants in the MMACHC gene cause combined methylmalonic acidemia (MMA) and homocystinuria, cobalamin C (cblC) type. This study aimed to determine whether heterozygous MMACHC variant carriers exhibit elevated plasma homocysteine (Hcy) levels ...
Yi Ding, Yuxin Deng, Haijuan Zhi, Xia Zhan, Wenjun Ji, Zizhen Gong, Lili Hao, Lianshu Han   +7 more
doaj   +2 more sources

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Nature Communications, 2018
Inborn errors of vitamin B12 metabolism of the cblC class are caused by mutations in the MMACHC gene. Here, Guéant et al. report epi-cblC, a class of cblC in which patients are compound heterozygous for a genetic mutation and a secondary epimutation at ...
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K. Chung, Pierre-Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt   +30 more
doaj   +2 more sources

Neonatal-onset cblC-type methylmalonic acidemia combined with homocysteinemia: case report [PDF]

Frontiers in Pediatrics
ObjectiveTo investigate the clinical diagnostic features, screening and definitive diagnostic methods of neonatal-onset cblC type methylmalonic acidemia (MMA) combined with homocysteinemia, so as to provide a reference for early clinical identification ...
Guoqiang Zhang, Liming Zhang, Hong Liu
doaj   +2 more sources

Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect [PDF]

Frontiers in Cardiovascular Medicine
Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, represents the most common inborn error of cobalamin metabolism, caused by pathogenic variants in the MMACHC gene.
Dongling Xu, Chi Zhang, Lin Hao, Shaojie Bi, Aiying Xue, Liangshuai Yuan, Wenke Wang   +6 more
doaj   +2 more sources

Clinical phenotypes and genetic mutation analysis of 45 neonatal-onset methylmalonic acidemia [PDF]

Frontiers in Pediatrics
BackgroundMethylmalonic acidemia (MMA), the most prevalent organic acidemia in China, is an autosomal recessive disorder. Neonatal-onset MMA often presents with non-specific manifestation, often causing diagnostic delays.MethodsA retrospective analysis ...
Qun Xu, Lili Kang, Huiting Yv, Yunxia Li, Chen Liu, XiaoYing Li   +5 more
doaj   +2 more sources