harderoporphyria

Introduction

variant form of hereditary coproporphyria

Genetics

• associated with defects in CPOX
• may be due to homozygous defect in CPOX

Clinical manifestations

• severe variant form of hereditary coproporphyria
• earlier onset attacks Labatoratory:
• fecal harderoporphyrin
  • massive excretion of harderoporphyrin in feces
• marked decrease of coproporphyrinogen IX oxidase activity

More general terms

• hereditary coproporphyria