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The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare, autosomal recessive porphyria that typically presents in early infancy. Also known as Gunther disease, CEP results from a deficiency of uroporphyrinogen III (co-) synthase (UROIIIS). In most cases, the disorder is suggested during the first few days or weeks of life by pink, violet, or brown urinary staining of diapers. Clinical symptoms include hemolytic anemia, hepatosplenomegaly, skin photosensitivity, scarring and blistering, red or brown dental discoloration (erythrodontia), and hypertrichosis (excess body hair). Growth and cognitive developmental delays are commonly observed in individuals with CEP. A few cases of adult-onset CEP have been reported, typically associated with a myelodysplastic syndrome.
The workup of patients with a suspected porphyria is most effective when following a stepwise approach. See Porphyria (Cutaneous) Testing Algorithm in Special Instructions or contact Mayo Medical Laboratories to discuss testing strategies.
Diagnosis of congenital erythropoietic porphyria
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 a laboratory director in case the referring physician has additional questions.
This test is not useful for ruling out acute intermittent porphyria (AIP) a disorder caused by decreased uroporphyrinogen I synthase (also known as porphobilinogen deaminase). For AIP, order PBGD_ / Porphobilinogen Deaminase (PBGD), Whole Blood.
This test does not reliably distinguish between individuals who are carriers for congenital erythropoietic porphyria (CEP), and are at risk for having an affected child.
If possible, specimens from patients suspected of having CEP should be drawn prior to blood transfusions; uroporphyrinogen (UPG) III synthase activity in transfused erythrocytes can cause false-negative results.
Abstinence from alcohol for at least 24 hours is essential for accurate results. While the effects of alcohol on this enzyme have not yet been determined, alcohol is known to suppress or induce other enzymes in the heme biosynthetic pathway.
> or =75 Relative Units (normal)
See The Heme Biosynthetic Pathway in Special Instructions.
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 584-607
3. . 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
4. Desnick RJ, Astrin KH: Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol 2002;117(4):779-795