Results 91 to 100 of about 2,693,074 (200)

Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model.

, 2012
Methylmalonic aciduria is a rare disorder caused by an inborn error of organic acid metabolism. Current treatment options are limited and generally focus on disease management.
Pitt, James J, Pennell, Samuel D, Wood, Leonie R, Allen, Katrina J, Peters, Heidi L, Buck, Nicole E   +5 more
core   +1 more source

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)

JIMD Reports
Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid.
Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, Mara Doimo, Marianna Caterino, Christian Loro, Chiara Cazzorla, Margherita Ruoppolo, Leonardo Salviati, Alberto B. Burlina   +9 more
doaj   +1 more source

External quality assessment of urinary methylmalonic acid quantification - results of a pilot study [PDF]

, 2007
Müller, Wilhelm, Vogeser, Michael, Lorenzl, Stefan   +2 more
core   +1 more source

Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector

, 2014
Methylmalonic aciduria is a rare disorder of organic acid metabolism with limited therapeutic options, resulting in high morbidity and mortality. Positive results from combined liver/kidney transplantation suggest, however, that metabolic sink therapy ...
Wong, E., Peters, H., Fletcher, J., Anson, D., McIntyre, C., Ranieri, E.   +5 more
core   +1 more source

Systematic literature review on the methylmalonic acid level changes in transplanted patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency

Journal of Rare Diseases
Purpose Methylmalonic acidemia is caused by impaired metabolism of certain amino acids, odd-chain fatty acids and cholesterol side chains. One of the most severe forms of methylmalonic acidemia is caused by complete (mut0) or partial (mut-) deficiency of
Tamás Zelei, Kristóf Gyöngyösi, Máté Pálfi, Adina Turcu-Stiolica, Bertalan Németh, Zoltán Vokó, Vanja Sikirica, Patrick Burkett, Geetanjoli Banerjee   +8 more
doaj   +1 more source

Atypical methylmalonic aciduria : frequency of mutations in the methylmalonyl-CoA epimerase (MCEE) gene

, 2007
Methylmalonic aciduria results from defects in the enzyme methylmalonyl-CoA mutase and from defects in the synthesis of the enzyme's cofactor adenosylcobalamin.
Gradinger, Abigail.
core  

Irritable Bowel Disease: Think Malonic and Methylmalonic Aciduria (CMAMMA)!

JIMD Reports
Combined malonic and methylmalonic aciduria (CMAMMA; OMIM 614265) is a rare disorder of mitochondrial fatty acid synthesis caused by pathogenic variants in the ACSF3 gene, which encodes malonyl‐CoA synthetase.
Khaled Alatibi, Martin J. Hug, Sara Tucci   +2 more
doaj   +1 more source

Metabolic toxicity and neurological dysfunction in methylmalonic acidemia: from mechanisms to therapeutics

Molecular Medicine
Methylmalonic acidemia (MMAemia) is an inborn error of organic acid metabolism characterized by the accumulation of toxic metabolites—including methylmalonic acid (MMA), 2-methylcitric acid (2-MCA), propionic acid (PA), homocysteine (Hcy), ammonia, and ...
Mengmeng Du, Miaomiao Li, Shengnan Wu, Xue Wu, Yongxing Chen, Changlian Zhu   +5 more
doaj   +1 more source

Isolated methylmalonic acidemia: a case report.

, 2016
International audienceIsolated methylmalonic acidemia (AMR) is an inborn error of metabolism due to an enzymatic deficit in methylmalonyl-CoA mutase. AMR lead to increased methylmalonic acid in plasma and urine without hyperhomocysteinemia.
Cristol, Jean-Paul, Boubal, Mathilde, Baleine, Julien, Es Sadki, Tarik, Sieso, Victor, Vallat, Catherine, Cambonie, Gilles, Badiou, Stéphanie, Vianey-Saban, Christine   +8 more
core   +1 more source

Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia

Molecular and Cellular Pediatrics
Background Methylmalonic acidemia (MMA), the most prevalent type of inherited metabolic disorder, is inherited in an autosomal recessive pattern due to MUT gene mutations that impair methylmalonyl-CoA mutase (MCM) enzyme activity. These mutations lead to
Shuruq Alsuhaymi, Reem H. AlMalki, Maha Al Mogren, Ahamd Alodaib, Abdul-Hamid Emwas, Majed Dasouki, Ahmad Alfares, Mariusz Jaremko, Anas M. Abdel Rahman   +8 more
doaj   +1 more source