Unit Code 81249:
Acylglycines, Quantitative, Urine
Useful For
Biochemical diagnosis of selected inborn errors of metabolism
(see below) by quantitative determination of target urinary metabolites
that are present in amounts below the detection limit of routine organic
acid analysis.
Acylglycine analysis is the method of choice, in urine, for the
biochemical evaluation of asymptomatic patients affected with 1 of
the following inborn errors of metabolism:
-Short chain acyl-CoA dehydrogenase (SCAD) deficiency
-Functional SCAD deficiency (G625A, C611T variants)
-Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
-Medium-chain 3-ketoacyl-CoA thiolase (MCKAT) deficiency
-Electron transfer flavoprotein (ETF) deficiency (Glutaric acidemia type 2)
-ETF: ubiquinone oxidoreductase (ETF-QO) deficiency
(Glutaric acidemia type 2)
-Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
-Ethylmalonic encephalopathy
-2-Methylbutyryl-CoA dehydrogenase deficiency
-Isovaleryl-CoA dehydrogenase deficiency
-Glutaryl-CoA dehydrogenase deficiency
Method Name
Gas Chromatography-Mass Spectrometry (GC-MS)
Stable Isotope Dilution Analysis
Reporting Name
Acylglycines, QN, U
Ordering Mnemonic
ACYLG
Aliases
GA2 (order 80619, 81249, and 8439)
Glutaric Acidemia type 2 (order 80619, 81249, and 8439)
MADD (order 80619, 81249, and 8439)
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