Epimutation of MMACHC Compound to a Genetic Mutation in cblC Cases [PDF]
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 ...
Haiyan Wei, Yaodong Zhang, Yongxing Chen
exaly +4 more sources
Analysis of homocysteine levels in carriers with MMACHC gene variants [PDF]
Orphanet Journal of Rare DiseasesObjective 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 +7 more
doaj +3 more sources
Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction [PDF]
Case Reports in Critical CareCobalamin C (Cbl-C) disease, the most common inborn error of cobalamin metabolism caused by biallelic pathogenic MMACHC variants, leads to multisystem involvement from methylmalonic acid and homocysteine accumulation.
Yutaka Furuta +7 more
doaj +3 more sources
A PRDX1 Mutant Allele Causes a MMACHC Secondary Epimutation in cblC Patients [PDF]
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 ...
David Coelho +2 more
exaly +8 more sources
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.
Jianbo Shu, Chao Wang, Xinjie Zhang
exaly +4 more sources
Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant [PDF]
Clinical EpigeneticsMutations 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 +7 more
doaj +2 more sources
Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect [PDF]
Frontiers in Cardiovascular MedicineCombined 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 +6 more
doaj +2 more sources
Clinical phenotypes and genetic mutation analysis of 45 neonatal-onset methylmalonic acidemia [PDF]
Frontiers in PediatricsBackgroundMethylmalonic 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 +5 more
doaj +2 more sources
A case report of ‘Two-Hit’ digenic mutations in PAH: role of PADN in management [PDF]
Frontiers in PharmacologyBackgroundPulmonary arterial hypertension (PAH) is a severe cardiopulmonary disorder characterized by progressive elevation of pulmonary vascular resistance, resulting to right ventricular dysfunction and premature mortality.
Zai-qiang Zhang +9 more
doaj +2 more sources
Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients [PDF]
Scientific ReportsMethylmalonic aciduria (MMA) is described by high methylmalonic acid concentrations in the blood and urine. This condition can be isolated or in combination with homocystinuria.
Mohadeseh Fathi +3 more
doaj +2 more sources