Results 51 to 60 of about 2,693,074 (200)
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 +6 more
doaj +1 more source
The Journal of Pathology, EarlyView.Abstract Propionic acidemia (PA) is a neurometabolic disorder caused by propionyl‐CoA carboxylase deficiency with frequent neurological involvement, yet cell‐type‐specific mechanisms remain poorly defined. We established human induced pluripotent stem cell (iPSC)‐derived astrocytes (iAs) from patients harboring PCCA or PCCB mutations and investigated ...
Irene González‐Garnacho +5 more
wiley +1 more source
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 +6 more
doaj +1 more source
Neuropsychiatric sequelae of chronic nitrous oxide misuse in middle‐aged adults: A case series
The American Journal on Addictions, EarlyView.Abstract Background and Objectives Chronic nitrous oxide (N2O) misuse causes heterogeneous neuropsychiatric toxicity. Methods We retrospectively reviewed three middle‐aged adults with chronic N2O misuse and neuropsychiatric presentations. Results Presentations included cognitive impairment, hallucinations, and variable neurologic dysfunction ...
Theodore Tsonis +3 more
wiley +1 more source
Mitochondrial Energy Metabolism In Neurodegeneration Associated With Methylmalonic Acidemia.
, 2015 Methylmalonic acidemia is one of the most prevalent inherited metabolic disorders involving neurological deficits. In vitro experiments, animal model studies and tissue analyses from human patients suggest extensive impairment of mitochondrial energy ...
Melo, Daniela R +3 more
core +2 more sources
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational NeurologyMethylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to
Wei Zhao, Yingli Zhang, Hongliang Zheng
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
Diabetes, Obesity and Metabolism, EarlyView.ABSTRACT Aims Metformin, the first‐line treatment for Type 2 diabetes mellitus (T2DM), may be neuroprotective but also lowers serum vitamin B12 by ~19%, raising concern that B12 depletion could offset this benefit. We used modern exploratory causal mediation methods in a nationally representative sample to test whether vitamin B12 and methylmalonic ...
Danial Fotros +2 more
wiley +1 more source
Metabolomics Insights Into Nutritional Intervention With Polyphenols in Feedlot Beef Cattle
New Zealand Journal of Agricultural Research, Volume 69, Issue 6, December 2026.Polyphenol‐based feed additives have been increasingly used in feedlot diets due to their potential to modulate rumen fermentation and systemic redox and inflammatory responses; however, mechanistic evidence at the systemic level in finishing cattle remains limited.
Lauro César Ferreira Beltrão +12 more
wiley +1 more source
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
BMC Medical Genetics, 2007 Background Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation.
Kaestner Klaus H +8 more
doaj +1 more source