urine - colour and porphyrin level are diagnostic. The patient may have burgundy red urine if uroporphyrin is present and this is a constant finding in congenital erythropoietic porphyria. Urine in acute intermittent porphyria becomes brown, red or black on standing whilst that of porphyria cutanea tarda shows a pink fluorescence when illuminated. Particular porphyrins raised except in erythropoietic protoporphyria.
serum - specific porphyrins raised except in variegate porphyria. Increase is moderate in porphyria cutanea tarda.
stool - specific porphyrins raised except in acute intermittent porphyria.
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