The diagnosis and follow-up of porphyria.
This review details an approach to the biochemical diagnosis and follow-up of porphyria. We discuss the problems of diagnosis of both symptomatic patients suspected of porphyria and patients being investigated because of a family history of porphyria. High performance liquid chromatography plays a major role in the investigation of these patients. Molecular biology is emerging as a useful tool in further defining this group of diseases.
Ratnaike
S
S
Department of Biochemistry, Royal Melbourne Hospital, Parkville, Victoria.
Blake
D
D
D000163:Acquired Immunodeficiency Syndrome / Q000150:complications; D002851:Chromatography, High Pressure Liquid; D005192:Family Health; D005500:Follow-Up Studies; D006418:Heme / Q000096:biosynthesis; D006505:Hepatitis / Q000150:complications; D006801:Humans; D008113:Liver Neoplasms / Q000150:complications; D011164:Porphyrias / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D011166:Porphyrins / Q000032:analysis*
D011166:Porphyrins; D006418:Heme