Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

demonstrate mild and intermittent biochemical phenotypes that are likely to be missed by standard urine
organic acid analysis. The quantitative analysis of urinary acylglycines by stable isotope dilution gas
chromatography/mass spectrometry is a more sensitive and specific method and is particularly effective
for identifying asymptomatic patients affected with 1 of the disorders listed below.
Useful For: 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
Interpretation: When abnormal results are detected, a detailed interpretation is given, including an
overview of the results and of their significance; a correlation to available clinical information; elements
of differential diagnosis; recommendations for additional biochemical testing and in vitro confirmatory
studies (enzyme assay, molecular analysis); name and phone number of key contacts who may provide
these studies at Mayo or elsewhere; and a phone number to reach one of the laboratory directors in case
the referring physician has additional questions.
Reference Values:
Control Values Results Expressed as mg/g Creatinine
Range
Ethylmalonic Acid 0.5-20.2
2-Methylsuccinic Acid 0.4-13.8
Glutaric Acid 0.6-15.2
Isobutyrylglycine 0.00-11.0
n-Butyrylglycine 0.1-2.1
2-Methylbutyrylglycine 0.3-7.5
Isovalerylglycine 0.3-14.3
n-Hexanoylglycine 0.2-1.9
n-Octanoylglycine 0.1-2.1
3-Phenylpropionylglycine 0.00-1.1
Suberylglycine 0.00-11.0
trans-Cinnamoylglycine 0.2-14.7
Dodecanedioic Acid (12 DCA) 0.00-1.1
Tetradecanedioic Acid (14 DCA) 0.00-1.0
Hexadecanedioic Acid (16 DCA) 0.00-1.0
Clinical References: 1. Rinaldo P, O'Shea JJ, Coates PM, et al: Medium-chain Acyl-CoA
dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurment of urinary n-hexanoylglycine
and 3-phenylpropionyl-glycine. N Engl J Med 1988;319:1308-1313 2. Rinaldo P, Welch RD, Previs SF,
et al: Ethylmalonic/adipic aciduria: effect of oral medium-chain triglycerides, carnitine, and glycine on
urinary excretion of organic acids, acylcarnitines, and acylglycines. Pediatr Res 1991;30:216-221 3.
Gibson KM, Terry G, Burlingame TG, et al: 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a
new inborn error of L-isoleucine metabolism. Pediatr Res 2000;47:830-833 4. Rinaldo P: Laboratory
diagnosis of inborn errors of metabolism. In Liver Disease in Children. 2nd edition. Edited by FJ Suchy.
Philadelphia, Lippincott, Williams & Wilkins, 2001, pp 171-184 5. Corydon MJ, Vockley G, Rinaldo P,
et al: Role of common variant alleles in the molecular basis of short-chain acyl-CoA dehydrogenase
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