Results 41 to 50 of about 12,645 (222)

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

Frontiers in Genetics, 2022
Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both.
Siqi Cheng, Weihong Chen, Mingmin Zhao, Xing Xing, Lei Zhao, Bowen Ren, Na Li   +6 more
doaj   +1 more source

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia? [PDF]

, 2008
Background Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate synthetase 1 ...
Virginie Levrat, Isabelle Forest, Alain Fouilhoux, Cécile Acquaviva, Christine Vianey-Saban, Nathalie Guffon, FX Coudé, B Gebhardt, B Gebhardt, M Wajner, RF Butterworth, FX Coudé, G Schubiger   +12 more
core   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Mouse models for methylmalonic aciduria. [PDF]

PLoS ONE, 2012
Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA mutase (MCM). MMA is associated with significant morbidity and mortality, thus therapies are necessary to help improve quality ...
Heidi L Peters, James J Pitt, Leonie R Wood, Natasha J Hamilton, Joseph P Sarsero, Nicole E Buck   +5 more
doaj   +1 more source

Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations

Stem Cell Research, 2022
Methylmalonic acidemia(MMA) is an autosomal recessive hereditary disease caused by methylmalonyl-CoA mutase defect or its coenzyme cobalamin metabolism defect.
Jing Luan, Hui Zou, Yazhou Cui, Jing Wang, Zhenzhong Han, Genglin Zhang, Jinxiang Han   +6 more
doaj   +1 more source

Methylmalonic Acid in Low-Fat Milk Syndrome

Journal of Dairy Science, 1981
The possible association between low-fat milk syndrome and methylmalonic acid accumulation in blood was investigated. Blood was sampled from the internal iliac artery of nine lactating dairy cows fed ad libitum roughage plus grain or high grain, restricted roughage diets.
W J, Croom, D E, Bauman, C L, Davis
openaire   +2 more sources

Relationship between methylmalonic acid and cobalamin in uremia [PDF]

Kidney International, 2000
Relationship between methylmalonic acid and cobalamin in uremia.To evaluate the requirement for routine supplementation with vitamin B12 and to study the effect of a change from injection to oral B12 supplementation, we examined the relationship between cobalamin and methylmalonic acid in plasma from 67 patients on chronic hemodialysis, all in regular ...
Moelby, Lars, Rasmussen, Karsten, Ring, Troels, Nielsen, Gert   +3 more
openaire   +2 more sources

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, Arnoux, Jean-Baptiste, Barbier, Valérie, Benoist, Jean-François, BODDAERT, Nathalie, Bonnefont, Jean-Paul, De Lonlay, Pascale, Desguerre, Isabelle, Habarou, Florence, Nizon, Mathilde, Ottolenghi, Chris, Rabier, Daniel, Touati, Guy, Valayannopoulos, Vassili   +13 more
core   +4 more sources

Chronic Low‐Dose Unsymmetrical Dimethylhydrazine Exposure in Rats: Multiorgan Mechanisms and Biomarker Identification

Journal of Applied Toxicology, EarlyView.
ABSTRACT Unsymmetrical dimethylhydrazine (UDMH), a highly toxic rocket propellant with known multiorgan effects, requires urgent characterization of its chronic low‐dose toxicity. Using an integrated approach including exploratory transcriptomics (n = 3/group) and metabolomic (n = 4/group) approaches in male Sprague–Dawley rats exposed to high‐dose ...
Fuzhou Liu, Bing Liu, Keli Wang, Xiaoyu Wang, Zhen Sun, Xiaojuan Pan, Zengming Zhao   +6 more
wiley   +1 more source

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

BMC Medical Genetics, 2020
Background Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood ...
Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Lin-Qi Chen, Hai-Ying Wu, Xu-Qin Chen   +9 more
doaj   +1 more source