Ethylmalonate

Ethylmalonate is an organic acid produced during normal fat and amino acid metabolism. Measuring ethylmalonate levels in blood helps detect rare metabolic disorders affecting fatty acid oxidation. Elevated ethylmalonate typically indicates a genetic defect in the enzyme ethylmalonyl-CoA mutase (EDHD, ethylmalonic encephalopathy). This rare condition causes neurological and developmental problems. Testing is usually ordered when investigating developmental delays, neurological symptoms, or as part of newborn screening for metabolic disorders.