Test Catalog

Test Id : AGU20

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Acylglycines, Quantitative, Random, Urine

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Overview

Test Catalog

Useful For
Suggests clinical disorders or settings where the test may be helpful

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

Highlights

This test provides a quantitative report of abnormal levels of acylglycines in urine, identified via gas chromatography mass spectrometry.

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Method Name
A short description of the method used to perform the test

Gas Chromatography Mass Spectrometry (GC-MS)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Acylglycines, QN, U

Aliases
Lists additional common names for a test, as an aid in searching

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

3MGA

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Specimen Type
Describes the specimen type validated for testing

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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.

4 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

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

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

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

Useful For
Suggests clinical disorders or settings where the test may be helpful

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

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Acylglycines are glycine conjugates of acyl-coenzyme A species, which occur as normal intermediates of amino acid and fatty acid metabolism. In abnormal concentrations, acylglycines are biochemical markers of selected inborn errors of metabolism. Analysis of acylglycines is useful for the diagnosis and monitoring for specific fatty acid oxidation disorders and organic acidurias; however, it is recommended to use this testing in conjunction with urine organic acids and plasma acylcarnitines testing in order to establish a diagnosis.

 

In particular, acylglycine analysis is more sensitive and specific for the identification of asymptomatic patients and those who may experience mild or intermittent biochemical phenotypes that could be missed by organic acid analysis alone.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

n-Acetylglycine:< or =3.50 mg/g Creatinine

n-Propionylglycine:< or =2.25 mg/g Creatinine

Isobutyrylglycine:< or =3.00 mg/g Creatinine

Ethylmalonic acid:< or =25.00 mg/g Creatinine

n-Butyrylglycine:< or =2.50 mg/g Creatinine

2-Methylsuccinic acid:< or =9.00 mg/g Creatinine

2-Methylbutyrylglycine:< or =2.00 mg/g Creatinine

Isovalerylglycine:< or =8.00 mg/g Creatinine

Glutaric acid:< or =8.00 mg/g Creatinine

3-Methylcrotonylglycine:< or =2.25 mg/g Creatinine

n-Tiglylglycine:< or =9.00 mg/g Creatinine

3-Methylglutaconic acid:< or =25.00 mg/g Creatinine

n-Hexanoylglycine:< or =2.00 mg/g Creatinine

n-Octanoylglycine:< or =2.00 mg/g Creatinine

3-Phenylpropionylglycine:< or =2.00 mg/g Creatinine

trans-Cinnamoylglycine:< or =5.50 mg/g Creatinine

Suberylglycine:< or =5.00 mg/g Creatinine

Dodecanedioic acid:< or =0.50 mg/g Creatinine

Tetradecanedioic acid:< or =0.50 mg/g Creatinine

Hexadecanedioic acid:< or =0.50 mg/g Creatinine

Interpretation
Provides information to assist in interpretation of the test results

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.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

No significant cautionary statements

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Rinaldo P, Hahn SH, Matern D. Inborn errors of amino acid, organic acid, and fatty acid metabolism. In: Burtis CA, Ashwood ER, Bruns DE eds. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. 4th ed. WB Saunders Company; 2005:2207-2247

2. Roe CR, Ding J. Mitochondrial fatty acid oxidation disorders. In: Valle D, Antonarakis S, Ballabio A, Beaudet A, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed March 21, 2024. http://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225087274

3. Kolker S, Cazorla AG, Valayannopoulos V, et al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015;38(6):1041-1057. doi:10.1007/s10545-015-9839-3

4. Tuncel AT, Boy N, Morath MA, Horster F, Mutze U, Kolker S. Organic acidurias in adults: late complications and management. J Inherit Metab Dis. 2018;41(5):765-776. doi:10.1007/s10545-017-0135-2

5. Pasquali M, Longo N. Newborn screening and inborn errors of metabolism. In: Rifai N, Chiu, RWK, Young I, Burnham CD, Wittwer CT, eds. Tietz Textbook of Laboratory Medicine. 7th ed. Elsevier; 2023:chap 60

Method Description
Describes how the test is performed and provides a method-specific reference

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)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday, Thursday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 6 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

3 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their account representative. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

82542

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
AGU20 Acylglycines, QN, U 50334-2
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
608931 Interpretation 53718-3
608910 n-Acetylglycine 99059-8
608911 n-Propionylglycine 13800-8
608912 Isobutyrylglycine 38360-4
608913 Ethylmalonic acid 13741-4
608914 n-Butyrylglycine 27892-9
608915 2-Methylsuccinic acid 13777-8
608916 2-Methylbutyrylglycine 27097-5
608917 Isovalerylglycine 13766-1
608918 Glutaric acid 13748-9
608919 3-Methylcrotonylglycine 13691-1
608920 n-Tiglylglycine 13816-4
608921 3-Methylglutaconic acid 13692-9
608922 n-Hexanoylglycine 13753-9
608923 n-Octanoylglycine 38367-9
608924 3-Phenylpropionylglycine 13793-5
608925 trans-Cinnamoylglycine 38417-2
608926 Suberylglycine 13811-5
608927 Dodecanedioic acid 13732-3
608928 Tetradecanedioic acid 50333-4
608929 Hexadecanedioic acid 50332-6
608930 Reviewed By 18771-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports

Test Update Resources

Change Type Effective Date
Test Changes - Reference Value 2024-05-16