An internal standard for the quantification of methylmalonic acid
Methylmalonic acid-d3 is intended for use as an internal standard for the quantification of methylmalonic acid by GC- or LC-MS. Methylmalonic acid is a dicarboxylic acid and byproduct of propionate catabolism.1 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.2 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-methylmaolnyl-CoA mutase or its cofactor 5-deoxyadenosylcobalamin and leads to seizures, intellectual disabilities, psychomotor abnormalities, and coma.1
1.da Costa, R.T., Dos Santos, M.B., Silva, I.C.S., et al.Methylmalonic acid compromises respiration and reduces the expression of differentiation markers of SH-SY5Y human neuroblastoma cellsACS Chem. Neurosci.12(14)2608-2618(2021) 2.Narasimhan, P., Sklar, R., Murrell, M., et al.Methylmalonyl-CoA mutase induction by cerebral ischemia and neurotoxicity of the mitochondrial toxin methylmalonic acidJ. Neurosci.16(22)7336-7346(1996)
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