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
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Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria [PDF]
Communications BiologyMethylmalonic aciduria (MMA) is an inborn error of metabolism resulting in loss of function of the enzyme methylmalonyl-CoA mutase (MMUT). Despite acute and persistent neurological symptoms, the pathogenesis of MMA in the central nervous system is poorly
Matthew C. S. Denley +12 more
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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 +15 more
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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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Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data [PDF]
Molecular Genetics and Metabolism Reports, 2018 Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened.
Kimberly A. Chapman +3 more
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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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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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Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features. [PDF]
Cureus, 2023 Diogo R +6 more
europepmc +2 more sources