Results 21 to 30 of about 10,813 (223)

Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
We present the case report of a patient with frequently decompensated methylmalonic acidemia (MMA) who was successfully treated with carglumic acid (Carbaglu®, CA). The efficacy and safety of long‐term CA in the management of MMA have been confirmed in a prospective, randomized controlled trial and our report provides additional real‐world evidence on ...
Flavia Tubili, Francesca Pochiero, Maria Rosaria Curcio, Elena Procopio   +3 more
wiley   +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

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

A meta‐analysis of methotrexate polyglutamates in relation to efficacy and toxicity of methotrexate in inflammatory arthritis, colitis and dermatitis

British Journal of Clinical Pharmacology, Volume 89, Issue 1, Page 61-79, January 2023., 2023
Aims In immune‐mediated inflammatory diseases (IMIDs), early symptom control is a key therapeutic goal. Methotrexate (MTX) is the first‐line treatment across IMIDs. However, MTX is underutilized and suboptimally dosed, partly due to the inability of making individualized treatment decisions through therapeutic drug monitoring (TDM). To implement TDM in
Maartje M. van de Meeberg, Renske C. F. Hebing, Michael T. Nurmohamed, Herma H. Fidder, Martijn W. Heymans, Gerd Bouma, Marjolein S. de Bruin‐Weller, Janneke Tekstra, Bart van den Bemt, Robert de Jonge, Maja Bulatović Ćalasan   +10 more
wiley   +1 more source

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   +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

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

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

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

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