Monitoring Methylmalonic Aciduria by NMR Urinomics [PDF]
Molecules, 2020 The paper reports on monitoring methylmalonic aciduria (MMA)-specific and non-specific metabolites via NMR urinomics. Five patients have been monitored over periods of time; things involved were diet, medication and occasional episodes of failing to ...
Alina Nicolescu +2 more
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Irritable Bowel Disease: Think Malonic and Methylmalonic Aciduria (CMAMMA)! [PDF]
JIMD ReportsCombined malonic and methylmalonic aciduria (CMAMMA; OMIM 614265) is a rare disorder of mitochondrial fatty acid synthesis caused by pathogenic variants in the ACSF3 gene, which encodes malonyl‐CoA synthetase.
Khaled Alatibi +2 more
doaj +3 more sources
Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria [PDF]
Orphanet Journal of Rare Diseases, 2020 Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism which has been proposed being a benign condition. However, older patients may present with neurological manifestations such as seizures, memory problems, psychiatric ...
Sara Tucci
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Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report [PDF]
BMC Pediatrics, 2021 Background Isolated methylmalonic aciduria can be caused by pathogenic mutations in the gene for methylmalonyl-CoA mutase or in the genes encoding enzymes involved in the intracellular metabolism of cobalamin.
Katarína Brennerová +6 more
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Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations [PDF]
Molecular Genetics and Metabolism Reports, 2020 Introduction: Methylmalonic Aciduria (MMA) is a heterogeneous group of rare diseases leading to accumulation of methylmalonic acid in body fluids. One of the causes of the disease is the methylmalonic aciduria, cblA type (cblA – type MMA), conditioned by
Dorota Wesół-Kucharska +8 more
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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
Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type [PDF]
HeliyonMethylmalonic aciduria and homocystinuria, cobalamin C type (cblC), constitute the most common inborn error of intracellular cobalamin metabolism. Here, we report the case of a 6-month-old child, presenting severe subacute neurological decline associated
Etienne Mondesert +8 more
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Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria [PDF]
JIMD Reports, 2021 Methylmalonyl‐CoA mutase (MMUT) is part of the propionyl‐CoA catabolic pathway, responsible for the breakdown of branched‐chain amino acids, odd‐chain fatty acids and the side‐chain of cholesterol.
Marie Lucienne +5 more
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Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report [PDF]
BMC Pediatrics, 2020 Background Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B12 metabolism with a wide spectrum of clinical manifestations.
Ling-yi Wen, Ying-kun Guo, Xiao-qing Shi
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Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study [PDF]
Orphanet Journal of Rare DiseasesWe read with interest the recent publication on methylmalonic aciduria (MMA) and commend the authors for their outstanding contribution. This letter aims to further build upon their work by emphasizing additional aspects to enhance clinical relevance and
Hiba Abid +3 more
doaj +3 more sources