Acylglycines, Quantitative

Label Mnemonic:	ACYLG
Epic code:	LAB2538
Downtime form:	A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery

Commercial Mail-out Laboratory
5231 RCP
356-8593

Specimen(s):

Random Urine

Specimen Instructions:

1. Patient's age is required.

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

Collection Medium:

Yellow top round bottom tube (no additive)

Minimum:

Preferred Minimum: 10 mL random urine
Absolute Minimum: 4 mL random urine

Turn Around Time:

5 days upon receipt at reference laboratory (not reported on Saturday or Sunday); 14 days maximum.

Reference Range:

 
                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                0.0-11.0
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         0.0- 1.1
Suberylglycine                   0.0-11.0
trans-Cinnamoylglycine           0.2-14.7
Dodecanedioic Acid (12 DCA)      0.0- 1.1
Tetradecanedioic Acid (14 DCA)   0.0- 1.0
Hexadecanedioic Acid (16 DCA)    0.0- 1.0

Interpretive Data:

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

Comments:

Freeze urine as soon as possible; this task is performed by Specimen Control in Pathology. Avoid dilute urine when possible. Clinical information is needed for appropriate interpretation. Additional required information includes age, gender, diet (e.g., TPN therapy), drug therapy, and family history.

Methodology:

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

CPT Code:

82542