Medium-chain acyl-CoA dehydrogenase deficiency: a useful diagnosis five years after death

We report a family in whom a fatal case of medium-chain acyl-CoA dehydrogenase (MCAD; EC 1.3.99.3) deficiency was diagnosed by enzymatic analysis of heart tissue that had been stored for five years. Three healthy siblings underwent subsequent investigation with the 3-phenylpropionic acid loading test. All siblings had been asymptomatic; however, one (age 2.5 years) excreted large amounts of 3-phenylpropionylglycine in response to the load and exhibited an organic aciduria consistent with the diagnosis of MCAD deficiency. The other two siblings did not demonstrate 3-phenylpropionylglycinuria after the loading test. This case underlines the importance of considering family history and using appropriate diagnostic tests in the recognition of hereditary metabolic disorders.