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.
Department of Chemical Pathology, Children's Hospital, Sheffield, U.K.
M J
MJ
Bennett
R J
RJ
Pollitt
L S
LS
Taitz
S
S
Variend
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D005190:Family; D005192:Family Health; D005260:Female; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D009206:Myocardium / Q000201:enzymology; D010666:Phenylpropionates
D010666:Phenylpropionates; C057466:3-phenylpropionylglycine; C035253:3-phenylpropionic acid; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D005998:Glycine