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HelpTest ID: ALAD Aminolevulinic Acid Dehydratase, Whole Blood
Reporting Name
ALA Dehydratase, WBUseful For
Preferred confirmation test for the diagnosis of aminolevulinic acid dehydratase deficiency porphyria
This test is not useful for detecting lead intoxication.
Clinical Information
Porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. A defect in the second enzyme of this pathway causes 5-aminolevulinic acid (ALA) dehydratase (ALAD) deficiency porphyria (ADP). A marked deficiency of ALAD causes the accumulation and subsequent urinary excretion of large amounts of ALA. Urinary porphobilinogen remains essentially normal, which rules out other forms of acute porphyria.
ADP is an autosomal recessive acute hepatic porphyria that produces neurologic symptoms similar to those seen in acute intermittent porphyria. Symptoms include acute abdominal pain, peripheral neuropathy, nausea, vomiting, constipation, and diarrhea. Respiratory impairment, seizures, and psychosis are possible during an acute period. ADP is extremely rare with only 8 cases described in the literature since 1979.
The workup of patients with a suspected porphyria is most effective when following a stepwise approach. Molecular confirmation is available; order CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; specify ALAD Gene List ID: IEMCP-D81317. See Porphyria (Acute) Testing Algorithm or call 800-533-1710 to discuss testing strategies.
Interpretation
Abnormal results are reported with a detailed interpretation including an overview of the results and their significance, a correlation to available clinical information provided with the specimen, differential diagnosis, and recommendations for additional testing when indicated and available.
Testing Algorithm
The following algorithms are available:
-Porphyria (Acute) Testing Algorithm
Report Available
2 to 8 daysDay(s) Performed
Tuesday
Clinical Reference
1. Tortorelli S, Kloke K, Raymond K. Disorders of porphyrin metabolism. In: Dietzen DG, Bennett MJ, Wong ECC, eds. Biochemical and Molecular Basis of Pediatric Disease. 4th ed. AACC Press; 2010:307-324
2. Nuttall KL, Klee GG. Analytes of hemoglobin metabolism-porphyrins, iron, and bilirubin. In: Burtis CA, Ashwood ER, eds. Tietz Textbook of Clinical Chemistry. 5th ed. WB Saunders Company; 2001:584-607
3. Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Valle D, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, 2019. Accessed April 19, 2024. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225540906&bookid=2709
4. Lahiji AP, Anderson KE, Chan A. 5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin. Mol Genet Metab. 2020;131(4):418-423. doi:10.1016/j.ymgme.2020.10.011
Method Name
Enzymatic End point/Spectrofluorometric
Specimen Type
Whole bloodOrdering Guidance
This assay is not useful in assessment of lead intoxication as it reactivates aminolevulinic acid dehydratase that has been inhibited by lead. The preferred test for lead toxicity is PBDV / Lead, Venous, with Demographics, Blood.
Necessary Information
1. Patient’s age is required
2. Include a list of medications the patient is currently taking.
Specimen Required
Patient Preparation: Patient must not consume any alcohol for 24 hours before specimen collection. This is essential as ethanol suppresses aminolevulinic acid dehydratase activity, leading to false-positive results.
Container/Tube:
Preferred: Green top (sodium heparin)
Acceptable: Lavender top (EDTA) or green top (lithium heparin)
Specimen Volume: Full tube 4 mL
Collection Instructions: Refrigerate specimen as soon as possible.
Specimen Minimum Volume
3 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Refrigerated (preferred) | 7 days | |
| Ambient | 4 days |
Special Instructions
Reference Values
Reference ranges have not been established for patients who are younger than 16 years of age.
≥4.0 nmol/L/sec
3.5-3.9 nmol/L/sec (indeterminate)
<3.5 nmol/L/sec (diminished)
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
82657
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| ALAD | ALA Dehydratase, WB | 12916-3 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 4021 | ALA Dehydratase | 12916-3 |
| 28399 | Interpretation | 59462-2 |
| 606468 | Reviewed By | 18771-6 |
Forms
New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
mml-Neuromuscular, mml-Pediatric