Aminolevulinic Acid Dehydratase, Whole Blood
Use
The test is used as a preferred confirmation for diagnosing aminolevulinic acid dehydratase deficiency porphyria (ADP), an autosomal recessive acute hepatic porphyria. ADP causes marked deficiency in ALAD enzyme activity, leading to the accumulation and urinary excretion of large amounts of 5-aminolevulinic acid. It helps differentiate ADP from other forms of acute porphyria by showing normal porphobilinogen levels.
Special Instructions
Not provided.
Limitations
The test is not useful for detecting lead intoxication, as lead inhibits ALA dehydratase but the test reactivates it. False-positive values may occur due to enzyme degradation from improper specimen handling. Appropriate specimen collection and handling are crucial for accurate results.
New York Approved
Methodology
Other
Biomarkers
Aminolevulinic Acid
Analyte
LOINC Codes
- 12916-3 - PBG Synthase Bld-cCnc
- 12916-3 - PBG Synthase Bld-cCnc
- 59462-2 - Clinical biochemist review
- 18771-6 - Provider signing name
Result Turnaround Time
2-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
3 mL
Container
Green top (sodium heparin preferred); lavender top (EDTA) or green top (lithium heparin) acceptable
Collection Instructions
Refrigerate specimen as soon as possible.
Patient Preparation
Patient must not consume any alcohol for 24 hours before specimen collection.
Causes for Rejection
Gross hemolysis will lead to specimen rejection.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 7 days |