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Order Code AGU20 Acylglycines, Quantitative, Random, Urine


Additional Testing Requirements


Diagnostic specificity of inborn errors of metabolism via urine acylglycine testing is available only for selected inborn errors of metabolism; it is recommended that urine organic acids (OAU / Organic Acids Screen, Random, Urine) be ordered and assessed simultaneously due to the limited number of metabolites included in this urine acylglycine test.



Necessary Information


1. Patient's age and sex are required.

2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information



Specimen Required


Supplies: Urine Tubes, 10 mL (T068)

Container/Tube: Plastic, 10-mL urine tube

Specimen Volume: 10 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.

Collection Instructions:

1. Collect a random urine specimen.

2. No preservative.


Useful For

Diagnosis and monitoring for patients affected with one of the following inborn errors of metabolism:

 

Fatty Acid Oxidation Disorders:

-Glutaric acidemia type II

-Medium-chain 3-ketoacyl-coenzyme A (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 deficiency

-Isovaleryl-CoA dehydrogenase deficiency

-Multiple carboxylase deficiency

-Propionic acidemia

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

Reporting Name

Acylglycines, QN, U

Specimen Type

Urine

Specimen Minimum Volume

4 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Urine Frozen (preferred) 416 days
  Refrigerated  9 days

Reject Due To

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

n-Acetylglycine:≤3.50 mg/g Creatinine

n-Propionylglycine:≤2.25 mg/g Creatinine

Isobutyrylglycine:≤3.00 mg/g Creatinine

Ethylmalonic acid:≤25.00 mg/g Creatinine

n-Butyrylglycine:≤2.50 mg/g Creatinine

2-Methylsuccinic acid:≤9.00 mg/g Creatinine

2-Methylbutyrylglycine:≤2.00 mg/g Creatinine

Isovalerylglycine:≤8.00 mg/g Creatinine

Glutaric acid:≤8.00 mg/g Creatinine

3-Methylcrotonylglycine:≤2.25 mg/g Creatinine

n-Tiglylglycine:≤9.00 mg/g Creatinine

3-Methylglutaconic acid:≤25.00 mg/g Creatinine

n-Hexanoylglycine:≤2.00 mg/g Creatinine

n-Octanoylglycine:≤2.00 mg/g Creatinine

3-Phenylpropionylglycine:≤2.00 mg/g Creatinine

trans-Cinnamoylglycine:≤5.50 mg/g Creatinine

Suberylglycine:≤5.00 mg/g Creatinine

Dodecanedioic acid:≤0.50 mg/g Creatinine

Tetradecanedioic acid:≤0.50 mg/g Creatinine

Hexadecanedioic acid:≤0.50 mg/g Creatinine

Method Description

Urine volumes equivalent to 0.25 to 0.50 mg of creatinine are spiked with the mixture of labeled internal standards, allowed to equilibrate, acidified, and then extracted. After evaporation, the dry residue is derivatized to butyl esters. Specimens are analyzed by capillary gas chromatography mass spectrometry selected ion monitoring using ammonia chemical ionization and a stable isotope dilution method.(Unpublished Mayo method)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542

Day(s) Performed

Monday, Thursday

Testing Algorithm

For more information see Newborn Screen Follow-up for Elevated C5-OH.