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Test ID: UPGDW Uroporphyrinogen Decarboxylase, Washed Erythrocytes

Reporting Name

UPG Decarboxylase, RBC

Useful For

Diagnosis of porphyria cutanea tarda type II and hepatoerythropoietic porphyria

Clinical Information

The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Porphyria cutanea tarda (PCT) is the most common porphyria resulting from a partial deficiency of hepatocyte or erythrocyte uroporphyrinogen decarboxylase (UROD; see The Heme Biosynthetic Pathway in Special Instructions). PCT is classified into 3 subtypes. The most frequently encountered is type I, a sporadic or acquired form, typically associated with concomitant disease or other precipitating factors. Patients exhibit normal UROD activity in erythrocytes but decreased hepatic activity. This differs from type II PCT in which patients exhibit approximately 50% activity in both erythrocytes and hepatocytes. Type II accounts for about 20% of cases and is inherited in an autosomal dominant manner with low penetrance. Type III is a rare familial form seen in less than 5% of PCT cases. As in type I, patients with type III PCT have normal UROD activity in erythrocytes with decreased hepatic activity. Type III cases are distinguished from type I by the history of other affected family members.

 

Hepatoerythropoietic porphyria (HEP) is a rare autosomal recessive form of porphyria that typically presents in early childhood. Patients have a severe deficiency of UROD, with activity levels 10% of normal in both hepatocytes and erythrocytes.

 

All forms of PCT and HEP result in accumulation of uroporphyrin and intermediary carboxyl porphyrins in skin, subcutaneous tissues, and the liver. The most prominent clinical characteristics are cutaneous photosensitivity and scarring on sun-exposed surfaces. Patients experience chronic blistering lesions resulting from mild trauma to sun-exposed areas. These fluid-filled vesicles rupture easily, become crusted, and heal slowly. Secondary infections can cause areas of hypo- or hyperpigmentation or sclerodermatous changes and may result in the development of alopecia at sites of repeated skin damage. Liver disease is common in patients with PCT as evidenced by abnormal liver function tests, with 30% to 40% of patients developing cirrhosis. In addition, there is an increased risk of hepatocellular carcinoma.

Interpretation

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.

Testing Algorithm

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 call 800-533-1710 to discuss testing strategies. If guidance is needed for an acute form of porphyria, the Porphyria (Acute) Testing Algorithm is also available in Special Instructions.

Analytic Time

3 days (Not reported on Saturday or Sunday)

Day(s) and Time(s) Performed

Thursday; 8 a.m.

Clinical Reference

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 August 9, 2017. Available at http://ommbid.mhmedical.com/content.aspx?bookid=971&Sectionid=62638866

4. Doss MO, Kuhnel A, Gross U: Alcohol and porphyrin metabolism. Alcohol 2000;35(2):109-125

Method Name

High-Performance Liquid Chromatography (HPLC)/Incubation of Lysed Erythrocytes

Specimen Type

Washed RBC


Advisory Information


Porphyria cutanea tarda (PCT) type I, the most common form of PCT, exhibits normal RBC enzyme activity. The preferred test for diagnosis is PQNU / Porphyrins, Quantitative, 24 Hour, Urine or PQNRU / Porphyrins, Quantitative, Random, Urine.



Necessary Information


Include a list of medications the patient is currently taking.



Specimen Required


Patient Preparation: Patient should abstain from alcohol for 24 hours. Abstinence from alcohol is essential for at least 24 hours as alcohol suppresses enzyme activity for 24 hours after ingestion.

Collection Container/Tube:

Preferred: Green top (heparin)

Acceptable: Lavender top (EDTA)

Submission Container/Tube: Plastic vial

Specimen Volume: Washed erythrocyte suspension

Collection Instructions: Collect and process whole blood specimen as follows:

1. Transfer entire specimen to a 12-mL graduated centrifuge tube.

2. Centrifuge specimen for 10 minutes at 2,000 rpm.

3. Record volume of packed cells and the total volume of the specimen.

4. Discard supernatant plasma.

5. Wash erythrocytes 2 times by resuspension with 5 mL of cold 0.9% saline, discarding supernatant after each washing.

6. Resuspend packed cells to the original total volume with 0.9% saline. Invert specimen gently to mix.


Specimen Minimum Volume

1 mL of washed and resuspended erythrocytes

Specimen Stability Information

Specimen Type Temperature Time Special Container
Washed RBC Frozen (preferred) 14 days
  Refrigerated  14 days
  Ambient  4 days

Reference Values

1.0 RU (normal)

0.80-0.99 RU (indeterminate)

<0.80 RU (indicative of PCT type II)

RU = Relative Units

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
UPGDW UPG Decarboxylase, RBC 49596-0

 

Result ID Test Result Name Result LOINC Value
31892 UPG Decarboxylase, RBC 49596-0
606381 Interpretation 59462-2
606382 Reviewed By 18771-6

Forms

1. 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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.

Mayo Clinic Laboratories | Neurology Catalog Additional Information:

mml-Neuromuscular, mml-Pediatric, mml-Neurometabolic