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Variations in Porphobilinogen and 5-Aminolevulinic Acid Concentrations in Plasma and Urine from Asymptomatic Carriers of the Acute Intermittent Porphyria Gene with Increased Porphyrin Precursor Excretion

¹ Porphyria Centre Sweden, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden.
² Department of Internal Medicine, Karolinska Institute, Stockholm Söder Hospital, Sweden.
³ Zymenex A/S, Hillerød, Denmark, and Lidingö, Sweden.

^aAddress correspondence to this author at: Porphyria Centre Sweden, CMMS C2 71, Karolinska University Hospital Huddinge, SE-141 86 Stockholm, Sweden. Fax 46-8-58582760; e-mail pauline.harper{at}karolinska.se.

Background: The heme precursors porphobilinogen (PBG) and 5-aminolevulinic acid (ALA) accumulate during overt crises of acute intermittent porphyria (AIP), and high excretion of these metabolites often continues in the asymptomatic phase.

Methods: We measured concentrations of PBG and ALA and investigated the correlation between these metabolites in plasma and urine in 10 asymptomatic AIP carriers with high excretion and in 5 healthy individuals. We quantified plasma concentrations with an HPLC–mass spectrometric method and urine concentrations with ion-exchange chromatography.

Results: The mean (SD) plasma concentrations of PBG and ALA in the AIP carriers were 3.1 (1.0) and 1.7 (0.7) µmol/L, respectively. The mean 8-h urinary excretion amounts of PBG and ALA in the AIP carriers were 102 (25) and 56 (18) µmol, respectively, whereas the corresponding values for healthy individuals were 2.9 (0.7) and 9.3 (1.2) µmol. The correlations between PBG and ALA values in plasma and urine of the AIP carriers were 0.678 and 0.856, respectively. The mean PBG/ALA ratio was 2.0 in both plasma and urine for the AIP carriers and 0.3 in urine for the healthy individuals. The renal clearance rates for PBG and ALA were 71 (15) and 70 (13) mL/min, respectively.

Conclusions: The described HPLC-mass spectrometric method enabled characterization of variations in plasma PBG and ALA in AIP carriers during an 8-h period. The renal clearances were similar for both metabolites. This method could be used to monitor AIP patients during treatment.

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