Sorted By Test Name - Mayo Medical Laboratories

PFR
28117
PQNRU
60597
available, and a phone number to reach one of the laboratory directors in case the referring physician has
additional questions.
Reference Values:
Porphyrins mcg/24 hours
Uroporphyrin I
Uroporphyrin III
Heptacarboxyl Porphyrin I
Heptacarboxyl Porphyrin III
Isoheptacarboxyl Porphyrins
Hexacarboxyl Porphyrin I
Hexacarboxyl Porphyrin III
Isohexacarboxyl Porphyrins
Pentacarboxyl Porphyrin I
Pentacarboxyl Porphyrin III
Isopentacarboxyl Porphyrins
Coproporphyrin I
Coproporphyrin III
Isocoproporphyrins
Protoporphyrins
Coproporphyrin III/Coproporphyrin I Ratio See The Heme Biosynthetic Pathway in Special Instructions.
Clinical References: 1. Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin
metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition. Edited by DJ
Dietzen, MJ Bennett, ECC Wong. AACC Press, 2010, pp 307-324 2. Nuttall KL, Klee GG: Analytes of
hemoglobin metabolism - porphyrins, iron, and bilirubin. In Tietz Textbook of Clinical Chemistry. Fifth
edition. Edited by CA Burtis, ER Ashwood. Philadelphia, WB Saunders Company, 2001, pp 584-607 3.
Anderson KE, Sassa S, Bishop DF, Desnick RJ: Disorders of heme biosynthesis: X-linked sideroblastic
anemia and the porphyrias. In The Metabolic Basis of Inherited Disease. Eighth edition. Edited by CR
Scriver, AL Beaudet, WS Sly, et al. New York, McGraw-Hill BookCompany, 2001, pp 2991-3062
Porphyrins, Fractionation, Reflex
Reference Values:
Only orderable as part of a reflex test. For further information see PEE/88886 Porphyrin Evaluation,
Erythrocytes.
Porphyrins, Quantitative, Random, Urine
Clinical Information: The porphyrias are a group of inborn errors of metabolism resulting from
defects in the heme biosynthetic pathway. Enzymatic deficiencies result in the accumulation and excretion
of intermediary metabolites in different specimen types. The pattern of excretion of the heme precursors
in urine and feces and the accumulation within erythrocytes allow for the detection and differentiation of
the hereditary porphyrias. These accumulations cause characteristic clinical manifestations, which may
include neurologic and psychological symptoms and/or cutaneous photosensitivity depending upon the
specific disorder. Although genetic in nature, environmental factors may exacerbate symptoms,
significantly impacting the severity and course of disease. Early diagnosis coupled with education and
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