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HelpTest Code ACYLG Acylglycines, Quantitative, Urine
Reporting Name
Acylglycines, QN, UUseful For
Biochemical screening of asymptomatic patients affected with 1 of the following inborn errors of metabolism:
-Short chain acyl-CoA dehydrogenase (SCAD) deficiency
-Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
-Medium-chain 3-ketoacyl-CoA thiolase (MCKAT) deficiency
-Glutaric acidemia type II
-Ethylmalonic encephalopathy
-2-Methylbutyryl-CoA dehydrogenase deficiency
-Isovaleryl-CoA dehydrogenase deficiency
-Glutaryl-CoA dehydrogenase deficiency
Testing Algorithm
The following algorithms are available in Special Instructions:
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
UrineAdvisory Information
Diagnostic specificity of inborn errors of metabolism via urine acylglycine testing is useful only for the selected inborn errors of metabolism; it is recommended that urine organic acids (OAU / Organic Acids Screen, Urine) be ordered and run simultaneously due to the limited number of metabolites included in this urine acylglycine test.
Necessary Information
1. Patient's age is 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 (T068)
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.
Specimen Minimum Volume
4 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Urine | Frozen (preferred) | 416 days | |
| Refrigerated | 9 days |
Special Instructions
- Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma or serum C4 acylcarnitine elevations)
- Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitine Elevations (also applies to any plasma or serum C8, C6, and C10 acylcarnitine elevations)
- Newborn Screening Follow-up for Isolated C5 Acylcarnitines Elevations (also applies to any plasma or serum C5 acylcarnitine elevations)
Reference Values
|
Control Values Results Expressed as mg/g Creatinine |
|
|
|
Range |
|
Ethylmalonic Acid |
0.5-20.2 |
|
2-Methylsuccinic Acid |
0.4-13.8 |
|
Glutaric Acid |
0.6-15.2 |
|
Isobutyrylglycine |
0.00-11.0 |
|
n-Butyrylglycine |
0.1-2.1 |
|
2-Methylbutyrylglycine |
0.3-7.5 |
|
Isovalerylglycine |
0.3-14.3 |
|
n-Hexanoylglycine |
0.2-1.9 |
|
n-Octanoylglycine |
0.1-2.1 |
|
3-Phenylpropionylglycine |
0.00-1.1 |
|
Suberylglycine |
0.00-11.0 |
|
trans-Cinnamoylglycine |
0.2-14.7 |
|
Dodecanedioic Acid (12 DCA) |
0.00-1.1 |
|
Tetradecanedioic Acid (14 DCA) |
0.00-1.0 |
|
Hexadecanedioic Acid (16 DCA) |
0.00-1.0 |
Day(s) and Time(s) Performed
Monday, Wednesday, Friday; 8 a.m.
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
82542
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| ACYLG | Acylglycines, QN, U | 50334-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 21011 | Ethylmalonic Acid | 13741-4 |
| 21012 | 2-Methylsuccinic acid | 13777-8 |
| 21013 | Glutaric acid | 13748-9 |
| 21014 | Isobutyrylglycine | 38360-4 |
| 23387 | n-Butyrylglycine | 27892-9 |
| 21015 | 2-Methylbutyrylglycine | 27097-5 |
| 21016 | Isovalerylglycine | 13766-1 |
| 23388 | n-Hexanoylglycine | 13753-9 |
| 21017 | n-Octanoylglycine | 38367-9 |
| 23389 | 3-Phenylpropionylglycine | 13793-5 |
| 23390 | Suberylglycine | 13811-5 |
| 21018 | trans-Cinnamoylglycine | 38417-2 |
| 21019 | Dodecanedioic acid | 13732-3 |
| 21020 | Tetradecanedioic acid | 50333-4 |
| 21021 | Hexadecanedioic acid | 50332-6 |
| 23414 | Interpretation | 53718-3 |
| 23416 | Reviewed By | 18771-6 |
Clinical Information
Acylglycines are glycine conjugates of acyl-CoA species. Acylglycines are normal intermediates of amino acid and fatty acid metabolism; however, in abnormal concentrations acylglycines are biochemical markers of selected inborn errors of metabolism (IEM). Analysis of acylglycines is a useful screening test in the evaluation of patients with a suspected IEM, though additional studies are necessary to establish a diagnosis. The biochemical diagnosis of these disorders is a complex process achieved by multiple tests and their integrated interpretation.
Although acylglycines are often ordered in conjunction with organic acids, acylglycine analysis is more sensitive and specific for the identification of asymptomatic patients and those with mild or intermittent biochemical phenotypes that could be missed by organic acid analysis alone. The quantitative analysis of urinary acylglycines is particularly effective for identifying asymptomatic patients affected with disorders including:
-Short chain acyl-CoA dehydrogenase (SCAD) deficiency
-Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
-Medium-chain 3-ketoacyl-CoA thiolase (MCKAT) deficiency
-Glutaric acidemia type II
-Ethylmalonic encephalopathy
-2-Methylbutyryl-CoA dehydrogenase deficiency
-Isovaleryl-CoA dehydrogenase deficiency
-Glutaryl-CoA dehydrogenase deficiency
Analytic Time
5 days (not reported on Saturday or Sunday)Reject Due To
| All specimens will be evaluated at Mayo Clinic Laboratories for test suitability. |
NY State Approved
YesMethod Name
Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis
Forms
If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.