Porphobilinogen 

Porphobilinogen 

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Porphobilinogen (PBG) is measured in patients with symptoms that suggest acute intermittent porphyria, variegate porphyria, or hereditary coproporphyria.

Individual results should be examined in the context of the reference range provided by the performing laboratory. The following reference range is a general guide, and variations exist:

Twenty-four–hour urine porphobilinogen level: 2.5 mg or less per 24 hours (≤11 µmol/24 hours)

Random urine porphobilinogen level: 2 mg/L (≤8.8 µmol/L)

Urinary porphobilinogen (PBG) levels are measured in the evaluation of neurovisceral porphyrias, namely acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria. [1]

Acute attacks are associated with drastic elevations in the urinary porphobilinogen level to several multiples of the upper limit of the reference range, generally 50-200 mg/24 hours; elevated porphobilinogen levels in the presence of appropriate clinical symptoms is diagnostic of porphyria. [2, 3]

Rarely, falsely elevated results may be seen in patients with hepatic impairment due to hepatitis, hepatocellular carcinoma, or lead poisoning. [4, 5]

The utility of a porphobilinogen level within the reference range depends on the patient’s current presentation. An acute attack with a porphobilinogen level within the reference range effectively rules out porphyria as a cause of the patient’s symptoms. However, patients with a distant history that suggests porphyria may have porphobilinogen levels within the reference range, particularly if they have had prolonged disease latency. These patients may be evaluated further with enzyme activity measurements or gene analysis. [4]

Urinary porphobilinogen (PBG) is ideally measured during an acute porphyric attack as a random spot test. Twenty-four–hour levels may also be obtained.

The sample should be collected with a urinalysis container or 24-hour urine container.

All specimen containers should be protected from light to prevent porphobilinogen degradation.

If the anticipated time until the test can be delivered to the laboratory and started is less than 4 days, the sample may be refrigerated. Otherwise, freezing allows up to 1 month for the test to be performed. [6]

It is important to note that porphobilinogen is not measured in the urine porphyrins assay; porphobilinogen needs to be measured separately. [7]

Porphobilinogen (PBG) is a pyrrole derivative and an essential component of the heme synthesis pathway. It is formed in the cytoplasm from aminolevulinic acid (ALA) and is then polymerized by the enzyme porphobilinogen deaminase (hydroxymethylbilane synthase) to hydroxymethylbilane. Porphobilinogen is water soluble and is minimally reabsorbed by the kidney; urine levels are therefore the most appropriate diagnostic method. [4]

Under physiologic conditions, porphobilinogen does not accumulate. However, in patients with inherited deficiencies in the enzyme porphobilinogen deaminase, provoking factors such as alcohol use, hormonal effects, or medications drive heme synthesis and overwhelm the limited enzyme capacity. As a result, these individuals can quickly develop dysautonomic symptoms (hypertension and tachycardia), neuropathic and psychiatric illness, and recurrent bouts of severe abdominal pain. [2, 4, 7]

Porphobilinogen is measured in patients with symptoms that suggest acute intermittent porphyria, [8, 9] variegate porphyria, or hereditary coproporphyria. Patients with an elevated porphobilinogen levels can undergo further testing to determine the subtype of porphyria present. During an acute attack, random spot testing is sufficient and shows several fold elevation of porphobilinogen levels above the upper limit of the reference range. In patients with latent disease, a 24-hour urine collection can be performed to increase sensitivity; however, a value within the reference range does not effectively rule out porphyria.

Karim Z, Lyoumi S, Nicolas G, Deybach JC, Gouya L, Puy H. Porphyrias: A 2015 update. Clin Res Hepatol Gastroenterol. 2015 Jul 1. [Medline].

Desnick Robert J, Kenneth H Astrin. The Porphyrias.” Harrison’s Principles of Internal Medicine. 17th ed. 2434-444.

Besur S, Schmeltzer P, Bonkovsky HL. Acute Porphyrias. J Emerg Med. 2015 Sep. 49 (3):305-12. [Medline].

Nuttall Kern L, George G Klee. Analytes of Hemoglobin Metabolism – Porphyrins, Iron, and Bilirubin. Tietz Textbook of Clinical Chemistry. 5th ed. WB Saunders: Philadelphia; 2001.

PBG Test. MedlinePlus Medical Encyclopedia.” U.S. National Library of Medicine. [Full Text].

Porphobilinogen, Urine.” ARUP Lab Tests. [Full Text].

Emergency Room Guidelines for Acute Porphyria. The American Porphyria Foundation. [Full Text].

Szlendak U, Lipniacka A, Bianketti J, Podolak-Dawidziak M, Bykowska K. Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria. Adv Clin Exp Med. 2015 Jan-Feb. 24 (1):63-8. [Medline].

Pallet N, Mami I, Schmitt C, Karim Z, François A, Rabant M, et al. High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria. Kidney Int. 2015 Aug. 88 (2):386-95. [Medline].

Roman Bronfenbrener, MD Resident Physician, Department of Dermatology, State University of New York, Stony Brook University School of Medicine

Roman Bronfenbrener, MD is a member of the following medical societies: Alpha Omega Alpha

Disclosure: Nothing to disclose.

Eric B Staros, MD Associate Professor of Pathology, St Louis University School of Medicine; Director of Clinical Laboratories, Director of Cytopathology, Department of Pathology, St Louis University Hospital

Eric B Staros, MD is a member of the following medical societies: American Medical Association, American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology

Disclosure: Nothing to disclose.

Porphobilinogen 

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