Genetic Deficiencies in Heme Production
The Porphyrins Profile measures the level of porphyrins in urine. High levels of porphyrins may indicate porphyria. Porphyria refers to a group of inherited or acquired diseases that prevent your body from correctly making heme, the precursor to hemoglobin. Elevated urine levels of porphyrins result from inhibition of key enzymatic steps, this can be from genetic deficiencies in heme production enzymes, hepatitis, renal disease, erythroid disease, as well as by heavy metal inhibition of heme enzyme synthesis. Elevated levels of urinary porphyrins have been found in both experimental animals and humans exposed to heavy metals.
Analytes
- Coproporphyrin I and III (CP)
- Heptacarboxy (7-CP)
- Hexacarboxy (6-CP)
- Pentacarboxy (5-CP)
- Precoproporphyrin (PreCP)
- Uroporphyrins (UP)
Specimen Requirement
10 mL urine minimum.
Please see collection instructions for detailed instructions.