Porphyrins

Porphyrias are uncommon disorders of haem biosynthesis. At least eight very different disorders can be defined. Symptoms are often non-specific. Assays are available for porphyrins and precursors. Measuring activities of enzymes in cells and DNA mutation analysis are useful for confirmation and family studies.

Centres:

• Cardiff UHW Porphyria Diagnostic Service
• King’s College Hospital Porphyria Service

Assays:

• Alphabetical list of those available