Results 31 to 40 of about 5,085,322 (244)

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report

BMC Pediatrics, 2021
Background Isolated methylmalonic aciduria can be caused by pathogenic mutations in the gene for methylmalonyl-CoA mutase or in the genes encoding enzymes involved in the intracellular metabolism of cobalamin.
Katarína Brennerová, Martina Škopková, Mária Ostrožlíková, Jana Šaligová, Juraj Staník, Vladimír Bzdúch, Daniela Gašperíková   +6 more
doaj   +1 more source

Methylmalonic Acid Compromises Respiration and Reduces the Expression of Differentiation Markers of SH-SY5Y Human Neuroblastoma Cells.

ACS Chemical Neuroscience, 2021
Methylmalonic acidemia is a rare metabolic disorder caused by the deficient activity of l-methylmalonyl-CoA mutase or its cofactor 5-deoxyadenosylcobalamin and is characterized by accumulation of methylmalonic acid (MMA) and alternative metabolites.
R. T. da Costa, M. D. dos Santos, I. Silva, Raquel de Almeida, M. S. Teruel, D. Carrettiero, C. Ribeiro   +6 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   +3 more sources

Dandy-Walker malformation in methylmalonic acidemia: a rare case report

BMC Pediatrics, 2021
Background Methylmalonic acidemia is an organic acid metabolism disorder that usually has nonspecific clinical manifestations. Case presentation A 3-month-old female infant was admitted to the hospital for developmental retardation.
Jingwei Liu, Zhuohang Liu, Haibo Yan, Yumei Li   +3 more
doaj   +1 more source

Physical and Neurological Development of a Girl Born to a Mother with Methylmalonic Acidemia and Kidney Transplantation and Review of the Literature

Children, 2021
Background: actual literature suggests that children of methylmalonic acidemia patients are mostly healthy, but data are only partial, especially regarding long-term outcome.
Alessia Marcellino, Cristiana Alessia Guido, Silvia Bloise, Saverio Mallardo, Sara Isoldi, Emanuela Del Giudice, Anna Dilillo, Vanessa Martucci, Mariateresa Sanseviero, Donatella Iorfida, Alberto Spalice, Riccardo Lubrano   +11 more
doaj   +1 more source

Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria

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, Déborah Mathis, Nathan Perkins, Ralph Fingerhut, Matthias R. Baumgartner, D. Sean Froese   +5 more
doaj   +1 more source

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 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

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

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