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Unit Code 81249:
Acylglycines, Quantitative, Urine

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

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 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

Ordering Mnemonic An alternate Mayo code (to the Unit Code) for a test

ACYLG

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

GA2 (order 80619, 81249, and 8439)

Glutaric Acidemia type 2 (order 80619, 81249, and 8439)

MADD (order 80619, 81249, and 8439)

Soft-ACYLG