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
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.
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.