Test Code AACYL Aminoacylase-1 Deficiency, Urine
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 (first morning void preferred).
2. No preservative.
Forms
Useful For
Follow-up quantitation of abnormal organic acid elevations of N-acetylated amino acids, in particular N-acetylalanine, N-acetylglycine, N-acetylmethionine, and N-acetylglutamic acid
Diagnosis of individuals with aminoacylase-1 deficiency
Evaluating patients with neurologic and psychiatric symptoms of unknown etiology
Special Instructions
Method Name
Gas Chromatography Mass Spectrometry (GC-MS)
Reporting Name
Aminoacylase-1 Deficiency, USpecimen Type
UrineSpecimen Minimum Volume
3 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Urine | Frozen (preferred) | 90 days | |
Refrigerated | 60 days |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitabilityReference Values
N-acetylglycine: ≤15.00 mmol/mol creatinine
N-acetyl alanine: ≤10.00 mmol/mol creatinine
N-acetylglutamic acid: ≤20.00 mmol/mol creatinine
N-acetylmethionine: ≤5.00 mmol/mol creatinine
Day(s) Performed
Monday
Report Available
3 to 9 daysPerforming Laboratory

Test Classification
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
82542
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
AACYL | Aminoacylase-1 Deficiency, U | 104695-2 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
621432 | Interpretation | 59462-2 |
621428 | N-acetylglycine | 104696-0 |
621429 | N-acetylalanine | 104697-8 |
621430 | N-acetylglutamic acid | 104698-6 |
621431 | N-acetylmethionine | 104699-4 |
621433 | Reviewed By | 18771-6 |