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Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.

Molecular genetics and metabolism - 1 Aug 2012

Dündar Halil, Özgül Riza Köksal, Güzel-Ozantürk Ayşegül, Dursun Ali, Sivri Serap, Aliefendioğlu Didem, Coşkun Turgay, Tokatli Ayşegül

Abstract excerpt

Methylmalonic acidemia is an autosomal recessive metabolic disorder affecting the propionate oxidation pathway in the catabolism of several amino acids, odd-chain fatty acids, and cholesterol. Methylmalonic acidemia is characterized by elevated levels of methylmalonic acid in the blood and urine. Mutations in the MUT gene, encoding methylmalonyl-CoA mutase carries out isomerization of L-methylmalonyl-CoA to...

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PMID: 22727635
DOI: 10.1016/j.ymgme.2012.05.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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