Methylmalonic Aciduria in Children: Clinical Recommendations
Педиатрическая фармакология, 2017 Methylmalonic acidemia (aciduria) is an inherited metabolic disturbance from the group of organic acidemias (acidurias). The article presents etiopathogenetic, epidemiological, diagnostic, and therapeutic aspects of the problem.
Alexander A. Baranov +16 more
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Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria [PDF]
BMC Medical Genetics, 2018 Background We sought to analyse MMACHC variants among 126 pedigrees with cobalamin (cbl) C deficiency and combined methylmalonic aciduria and homocystinuria by Sanger sequencing, characterize the spectrum of MMACHC gene variants, and perform prenatal ...
Shuang Hu +3 more
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Understanding the off-loading mechanism of adenosylcobalamin by Cupriviadus metallidurans adenosyltransferase from C. metallidurans Isobutyryl-CoA Mutase Fused [PDF]
Structural DynamicsEnzymes are Nature's highly efficient catalysts, driving the metabolism of diverse substrates essential for sustaining life across all biological kingdoms.
Jayoh Amurao Hernandez
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The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria. [PDF]
J Comput Assist Tomogr, 2019 Cheng A, Yao R, Cao W, Yu H.
europepmc +2 more sources
Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection. [PDF]
Clin Kidney J, 2023 Rafat C +6 more
europepmc +3 more sources
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria. [PDF]
BMC Pregnancy Childbirth, 2019 Grandone E +8 more
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Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria. [PDF]
Mol Genet Metab, 2019 Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an anaplerotic reaction which feeds into ...
Wongkittichote P +6 more
europepmc +3 more sources
Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations
Metabolites, 2023 Organic acidurias are a heterogeneous group of rare inherited metabolic disorders (IMDs) caused by a deficiency of an enzyme or a transport protein involved in the intermediary metabolic pathways.
Loai A. Shakerdi +4 more
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Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. [PDF]
, 2013 International audienceBACKGROUND: Classical organic acidurias including methylmalonic aciduria (MMA), propionic aciduria (PA) and isovaleric aciduria (IVA) are severe inborn errors of the catabolism of branched-chain amino acids and odd-numbered chain ...
Acquaviva, Cécile +13 more
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