Acylglycines, quantitative, urine

Alphabetical Test listing

Acylglycines, quantitative, urine-994

Test name:

Test number:

994

Excellian order number:

LAB994

Abbreviation:

MSO

Alternate names:

2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl Glycinuria
EE (Ethylmalonic Encephalopathy)
Ethylmalonic Encephalopathy (EE)

Useful for:

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

Specimen type:

Urine, random

Collection container:

Screw cap plastic container (non sterile)

Volume:

10 mL

Minimum volume:

4 mL
Pediatric: If insufficient collection volume, submit as much specimen as possible in a single container; the laboratory will determine if volume is sufficient for testing.

Processing instructions:

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

Transport container:

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

Transport and stability:

Frozen (preferred) - 416 days

Refrigerated - 9 days

Performing lab:

Mayo Clinic Laboratories (AGU20): R-NX

Days set up:

Mo, We, Fr

TAT:

3-6 days

Method:

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

Reference ranges:

See report

Clinical 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.

CPT codes:

82542

Date created:

06/05/2019

Revised date:

03/09/2023

Review date:

11/24/2023