Results 21 to 30 of about 2,508,935 (158)

Prenatal Diagnosis of Two Common Inborn Errors of Metabolism by Genetic and Mass Spectrometric Analysis of Amniotic Fluid

Frontiers in Pediatrics, 2022
Methylmalonic acidaemia (MMA) and ornithine transcarbamylase deficiency (OTCD) are both intoxication-type inborn errors of metabolism (IEM). Presently, genetic testing is the primary method for prenatally diagnosing these diseases.
Congcong Shi, Sitao Li, Yu Gao, Zhirong Deng, Hu Hao, Xin Xiao   +5 more
doaj   +1 more source

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

Homocysteine and methylmalonic acid in Phenylketonuria patients

Genetics and Molecular Biology, 2023
Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) and methylmalonic acid (MMA) levels were analyzed in samples from 25 phenylketonuria (PKU) patients. Comparisons were made between pre- and post-treatment values (n= 3); on treatment values, between periods with ...
Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Tássia Tonon, Soraia Poloni, Sidney Behringer, Henk J. Blom, François Maillot, Ida Vanessa Doederlein Schwartz   +7 more
openaire   +5 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

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

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

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.
Michael Vogeser, Lorenzl, Stephan, Stephan Lorenzl, Fabian Kirchhoff, Vogeser, Michael, Kirchhoff, Fabian   +5 more
core   +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

Vitamin B-12 deficiency stimulates osteoclastogenesis via increased homocysteine and methylmalonic acid [PDF]

, 2009
The risk of nutrient deficiencies increases with age in our modern Western society, and vitamin B(12) deficiency is especially prevalent in the elderly and causes increased homocysteine (Hcy) and methylmalonic acid (MMA) levels.
Bravenboer, N., Vaes, Bart L T, Vaes, B.L.T., Everts, V., Wilma T. Steegenga, Bravenboer, Nathalie, Steegenga, W.T., Lute, Carolien, Carolien Lute, de Groot, L.C.P.G.M., Müller, M.R., Henk J. Blom, de Groot, C.P.G.M., Muller, M., Dhonukshe-Rutten, R.A.M., de Groot, Lisette C P G M, Dhonukshe-Rutten, R.A., Bart L. T. Vaes, Teun J. de Vries, Blom, Henk J, Nathalie Bravenboer, Groot, L.C.P.G.M. de, de Vries, Teun J, Müller, Michael, Everts, Vincent, Rosalie A. Dhonukshe-Rutten, Michael Müller, de Vries, T.J., Lisette C. P. G. M. de Groot, Dhonukshe-Rutten, Rosalie A, Steegenga, Wilma T, Groot, C.P.G.M., de, Lute, C., Vries, T. J., Blom, H.J., Everts, V, Vries, T.J., de, Vincent Everts   +37 more
core   +2 more sources

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