Sign in →

Test ID ACYLG Acylglycines, Quantitative, Urine

Useful 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:

-Newborn Screening Follow-up for Elevations of C8, C6, and C10 Acylcarnitines (also applies to any plasma C8, C6, and C10 acylcarnitine elevations)

-Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma C4 acylcarnitine elevation)

-Newborn Screening Follow-up for Isolated C5 Acylcarnitine Elevations (also applies to any plasma C5 acylcarnitine elevation)

Method Name

Gas Chromatography-Mass Spectrometry (GC-MS) Stable Isotope Dilution Analysis

Reporting Name

Acylglycines, QN, U

Specimen Type

Urine

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.

Additional Information:

1. Patient's age is required.

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

Specimen Minimum Volume

4 mL

Specimen Stability Information

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

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 and/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

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) Performed

Monday, Wednesday, Friday; 8 a.m.

Report Available

5 days (not reported on Saturday or Sunday)

Performing Laboratory

Mayo Medical Laboratories in Rochester

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

NY State Approved

Yes