This review details an approach to the biochemical diagnosis and follo
w-up of porphyria. We discuss the problems of diagnosis of both sympto
matic patients suspected of porphyria and patients being investigated
because of a family history of porphyria. High performance liquid chro
matography plays a major role in the investigation of these patients.
Molecular biology is emerging as a useful tool in further defining thi
s group of diseases.