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Methylmalonic acid is a dicarboxylic acid and byproduct of propionate catabolism. It impairs mitochondrial respiration, increases glucose consumption, and downregulates the transcription of the mature neuronal markers neuron-specific enolase (ENO2) and synaptophysin (SYP) in neuronally differentiated SH-SY5Y cells. Intrastriatal administration of methylmalonic acid (100 mg/ml) induces neuronal loss in rats. Methylmalonic acid accumulates in the tissues and body fluids of patients with methylmalonic acidemia, an inborn error of metabolism characterized by a deficiency in the activity of L-methylmalonyl-CoA mutase or its cofactor 5-deoxyadenosylcobalamin and leads to seizures, intellectual disabilities, psychomotor abnormalities, and coma.Formal Name: 2-methyl-propanedioic acid. CAS Number: 516-05-2. Synonyms: Isosuccinic Acid, Methylmalonate, MMA, NSC 25201. Molecular Formula: C4H6O4. Formula Weight: 118.1. Purity: >95%. Formulation: (Request formulation change), A crystalline solid. Solubility: DMF: 30 mg/ml, DMSO: 30 mg/ml, Ethanol: 25 mg/ml, PBS (pH 7.2): 10 mg/ml. SMILES: OC(C(C)C(O)=O)=O. InChi Code: InChI=1S/C4H6O4/c1-2(3(5)6)4(7)8/h2H,1H3,(H,5,6)(H,7,8). InChi Key: ZIYVHBGGAOATLY-UHFFFAOYSA-N.
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