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Test ID: ACYLG
Acylglycines, Quantitative, Urine

Secondary ID A test code used for billing and in test definitions created prior to November 2011

81249

Useful For Suggests clinical disorders or settings where the test may be helpful

Biochemical screening 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 A short description of the method used to perform the test

Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Acylglycines, QN, U

Aliases Lists additional common names for a test, as an aid in searching

2-Methylbutyryl glycinuria
2-Methylbutyryl-CoA Dehydrogenase Deficiency
EE (Ethylmalonic Encephalopathy)
Electron-Transferring Flavoproteins (ETF) Deficiency
ETF (Electron-Transferring Flavoproteins) Deficiency
Ethylmalonic Encephalopathy (EE)
GA 1 (Glutaric Acidemia Type 1)
GA 2 (Glultaric Acidemia Type 2)
GA I (Glutaric Acidemia Type I)
GA II (Glutaric Acidemia Type II)
GA1
GA2
GA2 (order 80619, 81249, and 8439)
GAII Glutaric acidemia type 2)
GCDH (Glutaryl-CoA Dehydrogenase) Deficiency
Glutaric Acidemia (GA)
Glutaric Acidemia type 2 (order 80619, 81249, and 8439)
Glutaric Acidemia Type I (GA I)
Glutaric Acidemia Type II (GA II)
Glutaryl-CoA Dehydrogenase (GCDH) Deficiency
Isovaleric Acidemia (IVA)
Isovaleryl-CoA Dehydrogenase (IVD)
IVA (Isovaleric Acidemia)
IVD (Isovaleryl-CoA Dehydrogenase)
MADD (Multiple Acyl-CoA Dehydrogenase Deficiency)
MADD (order 80619, 81249, and 8439)
MCAD (Medium-Chain Acyl-CoA Dehydrogenase) Deficiency
MCKAT (Medium-Chain 3-Ketoacyl-CoA Thiolase) Deficiency
Medium-Chain 3-Ketoacyl-CoA Thiolase (MCKAT) Deficiency
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Methylmalonic Acidemia
Methylmalonic Aciduria (MMA)
MMA (Methylmalonic Aciduria)
Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)
SBCAD (Short/Branched-Chain Acyl-CoA Dehydrogenase) Deficiency
SCAD (Short-Chain Acyl-CoA Dehydrogenase) Deficiency
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
Short/Branched-Chain Acyl-CoA Dehydrogenase (SBCAD) Deficiency