Porphobilinogen

Specimen:

Random urine specimen, kept frozen and protect from light if immediate analysis is not possible.

Method:

Spectrophotometry.

Reference Interval:

< 10 µmol/L.

Application:

Diagnosis of acute neurological porphyria (acute intermittent porphyria, porphyria variegata, hereditary coproporphyria) during a symptomatic period.

Interpretation:

Porphobilinogen elevation establishes the diagnosis of an acute neurological porphyria, but the pattern of increased urinary porphyrin excretion must be defined to identify the specific disorder.

During an acute episode a normal porphobilinogen excludes porphyria as the cause of the acute symptoms.

Reference:

Lecha M et al. Dermatol Ther. 2003; 16(1): 65-72.