Methylmalonic aciduria: current faces of a “classical” organic aciduria [PDF]
Journal of Inherited Metabolic Disease, 2008 Methylmalonic aciduria (MMA) was first described about forty years ago. Since then, it has been frequently classified as a Bclassical organic aciduria. This term, to a less informed reader, could suggest that the condition is well-known, with little new information about it.
Ivo Barić
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Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria. [PDF]
Mol Genet Genomic Med, 2021 Expanded carrier screening (ECS) utilizes high‐throughput next‐generation sequencing to evaluate an individual's carrier status for multiple conditions.
Gabriel MC +5 more
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Methylmalonic aciduria articles [PDF]
Journal of Inherited Metabolic Disease, 2008 Methylmalonic aciduria can occur to a widely varying degree, in isolation or combined with homocystinuria in a range of conditions. These include absorption and transport disorders or defects of intracellular cellular metabolism of vitamin B12, nutritional deficiency of this vitamin, or genetic defects of methylmalonyl-CoA mutase.
Fowler, Brian
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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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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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Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation [PDF]
Clinical Case Reports, 2018 Key Clinical Message Methylmalonic aciduria children must follow an adequate diet with low protein intake and should be regularly monitored to prevent complications.
Joana Rosa +5 more
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Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency
The Turkish Journal of Pediatrics, 2022 Background. Methylmalonyl CoA epimerase (MCE) deficiency was first reported in 2006 and only a few cases have been reported so far. The clinical spectrum of MCE deficiency ranges from asymptomatic to lifethreatening metabolic decompensation ...
Havva Yazıcı +5 more
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Unlocking the mystery: Methylmalonic aciduria masquerading as Guillain–Barre syndrome
Karnataka Paediatric JournalMethylmalonic acidemia (MMA) is a rare genetic disorder characterised by impaired amino acid metabolism. MMA presents with diverse, age-dependent symptoms, affecting multiple organ systems, especially the central nervous system.
Vykuntaraju K. Gowda +3 more
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A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy. [PDF]
Int J Environ Res Public Health, 2020 Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methylmalonyl-CoA ...
Rossi C +12 more
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