Abstract
� Glutaric acidemia type I (GA-I) is a progressive neurodegenerative disease caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH) and accumulation of glutaric, glutaconic, and 3hydroxyglutaric acids in an affected patient’s urine. � Tandem mass spectrometry (MS/MS)-based detection of glutarylcarnitine in dried bloodspots forms the basis for screening for GA-I in asymptomatic individuals. The presence of normal levels of plasma glutarylcarnitine in asymptomatic individuals with GA-I deficiency may be falsely reassuring because urine glutarylcarnitine levels may be elevated in these individuals. � Measurement of urinary glutarylcarnitine levels by MS/MS should be part of the screening and diagnostic protocol for identifying individuals with GA-I, especially in populations with a high incidence of GAI, because these patients may benefit from early diagnosis and the introduction of dietary management during the presymptomatic stage of this disease.
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