Diagnosis of medium chain acyl-CoA dehydrogenase deficiency by stable isotope dilution analysis of urinary acylglycines: retrospective and prospective studies, and comparison of its accuracy to acylcarnitine identification by FAB/mass spectrometry.
In summary, we have demonstrated that the accurate quantitation of urinary HG and PPG by stable isotope dilution analysis is currently the most reliable method for the diagnosis of MCAD deficiency. This method is particularly useful for testing random samples from asymptomatic patients without any provocative test, and it is suitable to widely survey a fairly large population, such as patients with episodic manifestations and families with a history of SIDS.
Rinaldo
P
P
Yale University School of Medicine, Department of Human Genetics, New Haven, CT 06510.
O'Shea
J J
JJ
Welch
R D
RD
Tanaka
K
K
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D002247:Carbon Isotopes; D004583:Electrons; D005227:Fatty Acids / Q000652:urine*; D005998:Glycine / Q000652:urine*; D006801:Humans; D013058:Mass Spectrometry; D009587:Nitrogen Isotopes; D011446:Prospective Studies; D012189:Retrospective Studies; D013398:Sudden Infant Death / Q000453:epidemiology
D002247:Carbon Isotopes; D005227:Fatty Acids; D009587:Nitrogen Isotopes; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D005998:Glycine