Molecular, Immunological, Enzymatic and Biochemical Studies of Coproporphyrinogen Oxidase Deficiency in a Family with Hereditary Coproporphyria

The study focused on a 27-year-old woman with hereditary coproporphyria, characterized by recurrent renal pain, dark urine, and hair loss, but no photosensitivity. Elevated urinary porphyrin metabolites and fecal studies confirmed the diagnosis, with decreased coproporphyrinogen oxidase activity at 35% of normal levels. Her mother and sisters were identified as heterozygous carriers of the condition, showing reduced enzyme activity up to 50%. A novel mutation was discovered in the coproporphyrinogen oxidase gene, involving a cytosine to thymine transversion at nucleotide position 854. Immunological studies indicated decreased enzyme protein concentrations in the patient and her family members.