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2-Methylbutyryl Glycinuria 2-Methylbutyryl-CoA Dehydrogenase Deficiency EE (Ethylmalonic Encephalopathy) Ethylmalonic Encephalopathy (EE) GA 1 (Glutaric Acidemia Type 1) GA 2 (Glutaric Acidemia Type 2) GA II (Glutaric Acidemia Type II) GAII (Glutaric Acidemia Type 2) GCDH (Glutaryl-CoA Dehydrogenase) Deficiency Glutaric Acidemia (GA) Glutaric Acidemia Type 2 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) MADD 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 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 n-Acetylglycine n-Propionylglycine Isobutyrylglycine Ethylmalonic acid n-Butyrylglycine 2-Methylsuccinic acid 2-Methylbutyrylglycine Isovalerylglycine Glutaric acid 3-Methylcrotonylglycine n-Tiglylglycine 3-Methylglutaconic acid n-Hexanoylglycine n-Octanoylglycine 3-Phenylpropionylglycine trans-Cinnamoylglycine Suberylglycine Dodecanedioic acid Tetradecanedioic acid Hexadecanedioic acid
Acylglycines, Qnt, Ur (AGU20)
Diagnosis and monitoring for patients affected with 1 of the following inborn errors of metabolism:
Fatty Acid Oxidation Disorders
-Glutaric acidemia type II
-Medium-chain 3-ketoacyl-CoA thiolase (MCKAT) deficiency
-Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
-Short chain acyl-CoA dehydrogenase (SCAD) deficiency
-2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (2M3HBD) deficiency
-2-Methylbutyryl-CoA dehydrogenase deficiency
-3-Methylcrotonyl-CoA carboxylase deficiency
-Aminoacylase 1 deficiency
-Glutaryl-CoA dehydrogenase deficiency
-Isobutyryl-CoA dehydrogenase (IBD) deficiency
-Isovaleryl-CoA dehydrogenase deficiency
-Multiple carboxylase deficiency
This test provides a quantitative report of abnormal levels of acylglycines in urine, identified via gas chromatography-mass spectrometry.
1. Collect a random urine specimen.
2. No preservative.
1. Patient's age and sex are required.
2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
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 Clinic or elsewhere; and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.