Measurement of urinary porphyrin is used for the evaluation of porphyrias, such as acute intermittent porphyria, hereditary coproporphyria and alternate porphyria.
Quantitative measurement of porphyrinogen and total urinary porphyrins, together with the measurement of aminolevulinic acid, may help to determine the different forms of porphyria.
Porphyrins are a group of genetic disorders associated with deficiencies of various enzymes involved in either the synthesis of porphyrin or its metabolism. Porphyrins (uroporphyrins and coproporphyrins) and porphocholinogens are important building blocks in heme synthesis. Heme is a constituent of the red blood cell hemoglobin. In most forms of porphyria, there are elevated levels of porphyrins and porphyrin in the urine. Porphyrias are typically classified as erythropoietic or hepatic based on the location of the defective enzyme. In addition, hepatic porphyria can be further classified as chronic or acute, based on their clinical manifestations.
Acute hepatic porphyria, that is, acute intermittent porphyria, hereditary porphyria, and alternate porphyria, are associated with symptoms that usually begin in adolescence or later. Frequent symptoms include severe abdominal pain, peripheral neuropathy and psychiatric symptoms. Many medications, alcohol, infections, hunger, heavy metals and hormonal changes can cause seizures.
Possible Interpretations of Pathological Values
- Increase: Porphyria, liver disease, lead poisoning, pellagra
- Decrease: No clinical significance
Laboratory test results are the most important parameter for the diagnosis and monitoring of all pathological conditions. 70%-80% of diagnostic decisions are based on laboratory tests. Correct interpretation of laboratory results allows a doctor to distinguish "healthy" from "diseased".
Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be interpreted in relation to each individual case and family history, clinical findings and the results of other laboratory tests and information. Your personal physician should explain the importance of your test results.
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