• 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
  • Organic Acidurias
    • -2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (2M3HBD) deficiency
    • -2-Methylbutyryl-CoA dehydrogenase deficiency
    • -3-Methylcrotonyl-CoA carboxylase deficiency
    • -3-Methylglutaconyl-CoA-hydratase deficiency
    • -Aminoacylase 1 deficiency
    • -Beta-ketothiolase deficiency
    • -Ethylmalonic encephalopathy
    • -Glutaryl-CoA dehydrogenase deficiency
    • -Isobutyryl-CoA dehydrogenase (IBD) deficiency
    • -Isovaleryl-CoA dehydrogenase deficiency
    • -Multiple carboxylase deficiency
    • Propionic acidemia

Screw cap plastic container (non sterile)

1. Transfer 10mL of urine (minimum 4mL) to a Urine transport vial/tube - 10mL (Mayo T068)
2. Freeze

Urine transport vial/tube - 10mL (Mayo T068)

Frozen (preferred) - 416 days

Refrigerated - 9 days

Gas Chromatography-Mass Spectrometry (GC-MS) stable isotope dilution analysis

See report

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.