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The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Depending on the specific enzyme involved, various porphyrins and their precursors accumulate in different specimen types. The patterns of porphyrin accumulation in erythrocytes and plasma and excretion of the heme precursors in urine and feces allow for the detection and differentiation of the porphyrias.
The porphyrias are typically classified as erythropoietic or hepatic based upon the primary site of the enzyme defect. In addition, hepatic porphyrias can be further classified as chronic or acute, based on their clinical presentation.
The primary acute hepatic porphyrias: aminolevulinic acid dehydratase deficiency porphyria (ADP), acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP), are associated with neurovisceral symptoms that typically onset during puberty or later. Common symptoms include severe abdominal pain, peripheral neuropathy, and psychiatric symptoms. A broad range of medications (including barbiturates and sulfa drugs), alcohol, infection, starvation, heavy metals, and hormonal changes may precipitate crises. Photosensitivity is not associated with AIP, but may be present in HCP and VP.
The excretion of aminolevulinic acid (ALA) can be increased due to one of the inherited acute porphyrias or due to secondary inhibition of ALA dehydratase. Among the secondary causes, acute lead intoxication results in the highest degree of aminolevulinic aciduria. Less significant elevations are seen in chronic lead intoxication, tyrosinemia type I, alcoholism, and pregnancy.
The workup of patients with a suspected porphyria is most effective when following a stepwise approach. See Porphyria (Acute) Testing Algorithm and Porphyria (Cutaneous) Testing Algorithm in Special Instructions or contact Mayo Medical Laboratories to discuss testing strategies.
Assistance in the differential diagnosis of the various acute hepatic porphyrias
Abnormal results are reported with a detailed interpretation that may include an overview of the results and their significance, a correlation to available clinical information provided with the specimen, differential diagnosis, recommendations for additional testing when indicated and available, and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.
The preferred test for lead toxicity in children is blood lead (see PBDB / Lead with Demographics, Blood).
<1 year: < or =10 nmol/mL
1-17 years: < or =20 nmol/mL
> or =18 years: < or =15 nmol/mL
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. Anderson KE, Sassa S, Bishop DF, Desnick RJ: X-linked sideroblastic anemia and the porphyrias. In Disorders of Heme Biosynthesis. Edited by D Valle, AL Beaudet, B Vogelstein, et al. New York, McGraw-Hill, 2014. Accessed June 27, 2016. Available at http://ommbid.mhmedical.com/content.aspx?bookid=971&Sectionid=62638866
3. 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 584-607