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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.


Secondary ID

621427

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

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

Specimen Type

Urine

Specimen Minimum Volume

3 mL

Specimen Stability Information

Specimen Type Temperature Time
Urine Frozen (preferred) 90 days
  Refrigerated  60 days

Reject Due To

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

Reference 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

Interpretation

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).

Method Description

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mass spectrometry selected ion monitoring using ammonia chemical ionization and a stable isotope dilution method.(Unpublished Mayo method)

Day(s) Performed

Monday

Report Available

3 to 9 days

Specimen Retention Time

2 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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