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Test ID: PQNU Porphyrins, Quantitative, 24 Hour, Urine

Reporting Name

Porphyrins, QN, U

Useful For

Preferred screening test for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen transport will be longer than 72 hours (if the specimen will be received at Mayo Medical Laboratories within 72 hours of collection, PQNRU / Porphyrins, Quantitative, Random, Urine is recommended)

Testing Algorithm

The following algorithms are available in Special Instructions: 

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

Specimen Type

Urine


Necessary Information


1. 24-Hour volume is required.

2. Collection date and time should be documented upon completion of the 24-hour collection.

3. Include a list of medications the patient is currently taking.

4. See Urine Preservatives in Special Instructions for multiple collections.



Specimen Required


Patient Preparation: Patient should abstain from alcohol for 24 hours prior to, as well as during, collection.

Supplies:

Amber, 60-mL urine bottle (T596)

Sodium Carbonate, 5 gram (T272)

Specimen Volume: 20-50 mL

Collection Instructions:

1. Collect a 24-hour urine specimen.

2. Add 5 g of sodium carbonate (T272) as preservative at start of collection. This preservative is intended to achieve a pH of >7. Do not substitute sodium bicarbonate for sodium carbonate.

3. The container should be refrigerated and protected from light as much as possible during collection. An aliquot should be frozen when collection is complete.

4. Protect specimen from light.


Specimen Minimum Volume

15 mL

Specimen Stability Information

Specimen Type Temperature Time
Urine Frozen 7 days

Reference Values

UROPORPHYRINS (OCTACARBOXYL)

≤30 nmol/24 hours

 

HEPTACARBOXYLPORPHYRINS

≤9 nmol/24 hours

 

HEXACARBOXYLPORPHYRINS

≤8 nmol/24 hours

 

PENTACARBOXYLPORPHYRINS

≤10 nmol/24 hours

 

COPROPORPHYRINS (TETRACARBOXYL)

Males: ≤230 nmol/24 hours

Females: ≤168 nmol/24 hours

 

PORPHOBILINOGEN

≤2.2 mcmol/24 hours

Day(s) and Time(s) Performed

Monday through Friday; 7 a.m.

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

84110-Porphobilinogen, quantitative

84120-Porphyrins, quantitation and fractionation

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PQNU Porphyrins, QN, U In Process

 

Result ID Test Result Name Result LOINC Value
TM3 Collection Duration 13362-9
VL1 Urine Volume 3167-4
29357 Uroporphyrin, Octa 15096-1
29358 Heptacarboxylporphyrins 25434-2
29359 Hexacarboxylporphyrins 25438-3
29360 Pentacarboxylporphyrins 25494-6
29361 Coproporphyrin, Tetra 15041-7
29362 Porphobilinogen 14882-5
23403 Interpretation 59462-2

Clinical Information

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: 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. Crises may be precipitated by a broad range of medications (including barbiturates and sulfa drugs), alcohol, infection, starvation, heavy metals, and hormonal changes. Photosensitivity is not associated with AIP, but may be present in HCP and VP.

 

Cutaneous photosensitivity is associated with the chronic hepatic porphyrias: porphyria cutanea tarda (PCT) and the erythropoietic porphyrias; erythropoietic protoporphyria (EPP), X-linked dominant protoporphyria (XLDPP), and congenital erythropoietic porphyria (CEP). Although genetic in nature, environmental factors may exacerbate symptoms, significantly impacting the severity and course of disease.

 

CEP is an erythropoietic porphyria caused by uroporphyrinogen III synthase deficiency. Symptoms typically present in early infancy with red-brown staining of diapers, severe cutaneous photosensitivity with fluid-filled bullae and vesicles. Other common symptoms may include thickening of the skin, hypo- and hyperpigmentation, hypertrichosis, cutaneous scarring, and deformities of the fingers, eyelids, lips, nose, and ears. A few milder adult-onset cases have been documented as well as cases that are secondary to myeloid malignancies.

 

PCT is the most common form of porphyria and is most commonly sporadic (acquired) but in about 25% of cases it is inherited in an autosomal dominant manner. 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 and with 30% to 40% of patients developing cirrhosis. In addition, there is an increased risk of hepatocellular carcinoma.

 

Hepatoerythropoietic porphyria (HEP) is observed when an individual inherits PCT from both parents. Patients exhibit a similar clinical presentation to what is seen in CEP.

 

Urinary porphyrin determination is helpful in the diagnosis of most porphyrias including CEP, PCT, AIP, HCP, and VP. In addition, measurement of porphobilinogen (PBG) in urine is important in establishing the diagnosis of the acute neurologic porphyrias (AIP, HCP and VP). Neither urine porphyrins nor PBG is helpful in evaluating patients suspected of having EPP or XLDPP.

 

In addition, porphyrinuria may result from exposure to certain drugs and toxins or other medical conditions (ie, hereditary tyrosinemia type I). Heavy metals, halogenated solvents, various drugs, insecticides, and herbicides can interfere with heme production and cause "intoxication porphyria." Chemically, the intoxication porphyrias are characterized by increased excretion of uroporphyrin and/or coproporphyrin in urine.

 

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.

Interpretation

Abnormal results are reported with a detailed interpretation which 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.

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 June 27, 2016. Available at http://ommbid.mhmedical.com/content.aspx?bookid=971&Sectionid=62638866

Analytic Time

2 days (not reported on Saturday or Sunday)

Method Name

High-Performance Liquid Chromatography (HPLC) with Fluorometric Detection

Includes quantitation of coproporphyrins, uroporphyrins, and intermediate porphyrins (heptacarboxyl, hexacarboxyl, and pentacarboxyl).

Includes liquid chromatography-tandem mass spectrometry (LC-MS/MS) determination of porphobilinogen.

Urine Preservative Collection Options

Ambient

No

Refrigerate

No

Frozen

No

6N HCl

No

50% Acetic Acid

No

Na2CO3

Required**

Toluene

No

6N HNO3

No

Boric Acid

No

Thymol

No

**Protect specimen from light.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical