Results 11 to 20 of about 8,863 (211)

Elevated Urinary Methylmalonic Acid/creatinine ratio and Serum Sterol levels in Patients with Acute Ischemic Stroke [PDF]

Romanian Journal of Laboratory Medicine, 2018
Introduction: Sitosterolemia, defined as phytosterolemia, is a rare autosomal recessive disease characterized by elevated blood sterol levels. Our aim was to investigate serum plant sterols, methylmalonic acid, vitamin B12, oxidized-LDL and homocysteine ...
Sivrikaya Abdullah, Ozturk Serefnur, Ekmekci Hakan, Sağlam Aslıhan, Abusoglu Sedat, Unlu Ali   +5 more
doaj   +4 more sources

Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. [PDF]

PLoS ONE, 2017
Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL).
Péter Monostori, Glynis Klinke, Sylvia Richter, Ákos Baráth, Ralph Fingerhut, Matthias R Baumgartner, Stefan Kölker, Georg F Hoffmann, Gwendolyn Gramer, Jürgen G Okun   +9 more
doaj   +4 more sources

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   +8 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   +4 more sources

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   +6 more sources

Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia [PDF]

Cell Reports, 2017
Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although ...
Ding An, Jessica L. Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E. Murphy-Benenato, E. Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M. Lukacs, Randy J. Chandler, Lin T. Guey, Charles P. Venditti, Paolo G.V. Martini   +23 more
doaj   +2 more sources

Antioxidant System Disturbances, Bioenergetic Disruption, and Glial Reactivity Induced by Methylmalonic Acid in the Developing Rat Brain [PDF]

Neuroglia
Background: Elevated levels of methylmalonic acid (MMA) are observed in the bodily fluids and tissues of patients with methylmalonic aciduria, a metabolic disorder characterized by manifestations such as vomiting, lethargy, muscle weakness, seizures, and
Cristiano Antonio Dalpizolo, Josyane de Andrade Silveira, Manuela Bianchin Marcuzzo, Vitor Gayger-Dias, Vanessa-Fernanda Da Silva, Camila Vieira Pinheiro, Bruno Pereira dos Santos, Tiago Franco de Oliveira, Carlos-Alberto Gonçalves, Guilhian Leipnitz   +9 more
doaj   +2 more sources

Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature [PDF]

BMC Pediatrics
Background Methylmalonic acidemia is a rare autosomal recessive disorder of propionate catabolism characterized by the accumulation of propionic acid and methylmalonic acid caused by methylmalonyl-CoA mutase deficiency.
Fumiya Yamashita, Satoshi Akamine, Pin Fee Chong, Kenichi Maeda, Saori Kawakami, Sooyoung Lee, Masataka Ishimura, Kei Murayama, Yasunari Sakai, Ryutaro Kira   +9 more
doaj   +2 more sources

Image_1_Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment.JPEG [PDF]

, 2022
BackgroundThe cblC type methylmalonic acidemia is the most common methylmalonic acidemia (MMA) in China. The biochemical characteristics of this disease include elevated methylmalonic acid and homocysteine (HCY), increased propionylcarnitine (C3 ...
Shuqi Sun (2830394), Yu Rong (1340493), Wenqi Song (503416), Hong Jin (65601), Qiliang Li (1459033)   +4 more
core   +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