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Interpretation of Urine Porphyrins

Purpose:

To use the algorithm of Tefferi et al to assess urine porphyrin studies in the diagnosis of acute porphyria.

Specialty:

Endocrinology, Nutrition & Dermatology
Clinical Laboratory
Gastroenterology

Objective:

clinical diagnosis, including family history for genetics, laboratory tests

ICD-10:

E80

Description:

Porphyria results from an enzymatic defect in the heme biosynthetic pathway that results in excess accumulation and excretion of porphyrins or porphyrin precursor. Tefferi et al developed a simple algorithm for evaluating patients with possible porphyria. The work was done at the Mayo Clinic.

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