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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 (PBG) 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 7 cases described in the literature since 1979.
The workup of patients with a suspected porphyria is most effective when following a stepwise approach. See Porphyria (Acute) Testing Algorithm in Special Instructions or contact Mayo Medical Laboratories to discuss testing strategies.
Confirmation of a diagnosis of aminolevulinic acid dehydratase deficiency porphyria
Due to limited stability for this test, the preferred test for analysis of 5-aminolevulinic acid dehydratase (ALAD) is ALAD / Aminolevulinic Acid Dehydratase (ALAD), Whole Blood.
This test will not detect lead intoxication.
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, and a phone number to reach a laboratory director in case the referring physician has additional questions.
This assay is not useful in assessment of lead intoxication as it reactivates aminolevulinic acid dehydratase (ALAD) that has been inhibited by lead. The preferred test for lead toxicity is PBBD / Lead with Demographics, Blood.
Abstinence from alcohol is essential for at least 24 hours prior to specimen collection as ethanol suppresses ALAD activity.
False-positive values may result from enzyme degradation due to improper specimen handling. It is essential to adhere to instructions outlined in the Specimen Required and the Specimen Stability Information fields.
Reference ranges have not been established for patients who are <16 years of age.
> or =4.0 nmol/L/sec
3.5-3.9 nmol/L/sec (indeterminate)
<3.5 nmol/L/sec (diminished)
1. Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition. Edited by DJ Dietzen, MJ Bennett, ECC Wong. AACC Press, 2010, pp 307-324
2. Nuttall KL, Klee GG: Analytes of hemoglobin metabolism - porphyrins, iron, and bilirubin. In Tietz Textbook of Clinical Chemistry. Fifth edition. Edited by CA Burtis, ER Ashwood. Philadelphia, WB Saunders Company, 2001, pp 584-6073. Anderson KE, Sassa S, Bishop DF, Desnick RJ: Disorders of Heme Biosynthesis: X-Linked Sideroblastic Anemia and the Porphyrias In The Online Metabolic and Molecular Bases of Inherited Disease. Edited by Valle D, Beaudet AL, Vogelstein B, et al. New York, McGraw-Hill, 2014. Available at http://ommbid.mhmedical.com/content.aspx?bookid=971&Sectionid=62638866 Accessed June 27, 2016.