Results 41 to 50 of about 5,012,650 (270)

Methylmalonic Acid, a Biochemical Hallmark of Methylmalonic Acidurias but No Inhibitor of Mitochondrial Respiratory Chain [PDF]

Journal of Biological Chemistry, 2003
Methylmalonic acidurias are biochemically characterized by an accumulation of methylmalonic acid and alternative metabolites. An impairment of energy metabolism plays a key role in the pathophysiology of this disease, resulting in neurodegeneration of the basal ganglia and renal failure.
Kolker, S., Schwab, M.A., Horster, F., Sauer, S., Hinz, A., Wolf, N.I., Mayatepek, E., Hoffmann, G.F., Smeitink, J.A.M., Okun, J.G.   +9 more
openaire   +6 more sources

The relationship between exacerbated diabetic peripheral neuropathy and metformin treatment in type 2 diabetes mellitus

Scientific Reports, 2021
Metformin-treated diabetics (MTD) showed a decrease in cobalamin, a rise in homocysteine, and methylmalonic acid, leading to accentuated diabetic peripheral neuropathy (DPN). This study aimed to determine whether or not metformin is a risk factor for DPN.
Manal Mohammed Hashem, Ahmed Esmael, Abdelfattah Kasem Nassar, Mohammed El-Sherif   +3 more
doaj   +1 more source

An LC-MS/MS method for serum methylmalonic acid suitable for monitoring vitamin B12 status in population surveys

Analytical and Bioanalytical Chemistry, 2014
Ekaterina Mineva, Mindy Zhang, Daniel Rabinowitz, Karen W. Phinney, Christine M Pfeiffer   +4 more
openalex   +3 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 ...
Lars Moelby, Troels Ring, Karsten Rasmussen, Gert Nielsen   +3 more
openaire   +3 more sources

Diagnostic Accuracy of Holotranscobalamin, Vitamin B12, Methylmalonic Acid, and Homocysteine in Detecting B12 Deficiency in a Large, Mixed Patient Population

Disease Markers, 2020
Four biomarkers are commonly employed to diagnose B12 deficiency: vitamin B12 (B12), holotranscobalamin (HoloTC), methylmalonic acid (MMA), and homocysteine (Hcy).
Araceli Jarquin Campos, L. Risch, U. Nydegger, Jacobo Wiesner, Maclovia Vazquez Van Dyck, H. Renz, Z. Stanga, M. Risch   +7 more
semanticscholar   +1 more source

Rapid healing of a patient with dramatic subacute combined degeneration of spinal cord: a case report [PDF]

, 2017
Background: Prevalence of cobalamin deficiency is high especially in older patients and an immediate therapy start is necessary to prevent irreversible neurological damages. Unfortunately, the diagnosis of cobalamin deficiency is difficult and at present,
Roessler, Florian C., Wolff, Stephanie
core   +1 more source

An on-line solid phase extraction procedure for the routine quantification of urinary methylmalonic acid by liquid chromatography-tandem mass spectrometry [PDF]

, 2010
Background: The goal of this study was to develop and to validate an improved isotope-dilution-liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the quantification of methylmalonic acid (MMA) in urine.
Bolann BJ, Klee GG, Kushnir MM, Magera M, Rasmussen K   +4 more
core   +1 more source

Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient

Frontiers in Neurology, 2023
IntroductionCobalamin C (cblC) deficiency is a rare hereditary disorder affecting intracellular cobalamin metabolism, primarily caused by mutations in MMACHC.
Qihua Chen, Jianguang Tang, Hainan Zhang, Lixia Qin   +3 more
doaj   +1 more source

Transcobalamin C776G genotype modifies the association between vitamin B12 and homocysteine in older Hispanics. [PDF]

, 2010
Background/objectivesA common polymorphism, C776G, in the plasma B12 transport protein transcobalamin (TC), encodes for either proline or arginine at codon 259.
Allen, LH, Garrod, MG, Green, R, Haan, MN, Miller, JW   +4 more
core   +2 more sources

Methylmalonic acidemia: Neurodevelopment and neuroimaging

Frontiers in Neuroscience, 2023
Methylmalonic acidemia (MMA) is a genetic disease of abnormal organic acid metabolism, which is one of the important factors affecting the survival rate and quality of life of newborns or infants. Early detection and diagnosis are particularly important.
Tao Chen, Yian Gao, Shengdong Zhang, Yuanyuan Wang, Chaofan Sui, Linfeng Yang   +5 more
doaj   +1 more source