The Porphobilinogen Deaminase, Whole Blood test is used to a) confirm a diagnosis of acute intermittent porphyria (AIP) following a positive urine porphobilinogen (PBG) test and/or b) to evaluate disease risk in family members of an individual with a confirmed diagnosis of AIP.

Porphobilinogen deaminase, also known as uroporphyrinogen I synthase, is commonly confused with uroporphyrinogen III synthase, the enzyme deficient in congenital erythropoietic porphyria (CEP).

The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Acute intermittent porphyria (AIP) is caused by diminished erythrocyte activity of porphobilinogen deaminase (PBGD), also known as uroporphyrinogen I synthase or hydroxymethylbilane synthase (HMBS).

Onset of AIP typically occurs during puberty or later. Individuals may experience acute episodes of neuropathic symptoms.

Porphyrins are natural chemicals in the body that help form many important substances in the body. One of these is hemoglobin, the protein in red blood cells that carries oxygen in the blood.

Function of this test:

a) To monitor porphyria cutanea tarda (PCT)

Porphyria cutanea tarda (PCT) is a rare disorder characterized by painful, blistering skin lesions that develop on sun-exposed skin (photosensitivity). Affected skin is fragile and may peel or blister after minor trauma. Liver abnormalities may also occur. 

b) To confirm diagnosis of suspected variegate porphyria (VP) 

Variegate porphyria (VP) is classified as both a cutaneous and an acute porphyria. It can present with chronic blistering cutaneous manifestations and/or acute attacks of neurovisceral manifestations that may become chronic.

c) To comfirm erythropoietic protoporphyria (EPP)

Erythropoietic protoporphyria (EPP) is an inherited porphyria resulting in the accumulation of protoporphyrins in red blood cells that causes acute, painful photosensitivity and potential liver disease. It typically presents in early childhood with immediate pain and crying upon exposure to bright sunlight.

Oral bacterium P. gingivalis has been well-documented as a mediator of periodontal disease. Furthermore, hosts harboring this pathogen have been shown to have greater risk for rheumatoid arthritis. Researchers are elucidating the mechanisms by which P. gingivalis contributes to the pathogenesis of arthritic and their related disorders. Upregulation of intestinal lipopolysaccharides and subsequent inflammation, as well as citrullination of alpha-enolase, which shares homology with human tissue α-enolase, are described mechanisms of autoimmunity. 

Oral bacterium P. gingivalis has been well-documented as a mediator of periodontal disease. Furthermore, hosts harboring this pathogen have been shown to have greater risk for rheumatoid arthritis. Researchers are elucidating the mechanisms by which P. gingivalis contributes to the pathogenesis of arthritic and their related disorders. Upregulation of intestinal lipopolysaccharides and subsequent inflammation, as well as citrullination of alpha-enolase, which shares homology with human tissue α-enolase, are described mechanisms of autoimmunity. 

The level of Potassium (K) in hair does not reflect nutritional status or dietary intake. However, hair K levels may provide clinically relevant information pertaining to adrenal function and/or electrolyte balance

Potassium is a primary intra-cellular element required for fluid balance, nerve activity and muscle activity.

Potassium is an essential mineral and electrolyte crucial for maintaining cellular function, nerve signaling, muscle contractions, and fluid balance. In a hair mineral analysis, potassium levels provide insight into adrenal activity, metabolic health, and overall electrolyte balance. Unlike serum potassium, hair potassium reflects longer-term trends in mineral retention and utilization.

Sodium (Na+) and potassium (K+) are electrolytes that affect most metabolic functions. They serve to maintain osmotic pressure and hydration of various body fluid compartments, body pH and regulation of heart and muscle functions. Electrolytes are also involved in oxidation-reduction reactions and participate in essential enzymatic reactions. Electrolytes can be affected by state of hydration. Hemolysis can result in falsely elevated K+.

The Potassium - Arterial marker on Labcorp's Arterial Blood Gas (ABG) Panel measures the concentration of potassium ions (K+) in the arterial blood. Potassium is a critical electrolyte that plays a key role in maintaining cell function, nerve transmission, and muscle contraction. It is also essential in regulating the body's acid-base balance and controlling the electrical activity of the heart. Abnormal potassium levels can indicate a range of conditions: elevated levels (hyperkalemia) may suggest kidney dysfunction, acidosis, or cellular injury, while low levels (hypokalemia) can occur due to conditions like excessive diuretic use, alkalosis, or gastrointestinal losses (e.g., vomiting, diarrhea). Monitoring arterial potassium levels is crucial for assessing overall electrolyte balance, cardiac health, and metabolic function.