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

The study focused on a family with hereditary coproporphyria, particularly a 27-year-old woman experiencing symptoms like hair loss and dark urine. The research identified a novel mutation in the coproporphyrinogen oxidase gene, characterized by a cytosine to thymine transversion at nucleotide position 854 in exon 4. The patient exhibited decreased coproporphyrinogen oxidase activity (35% of normal), while her mother and sisters were heterozygous carriers with up to 50% activity. The father showed no genetic abnormalities. The study highlighted the biochemical and molecular basis of the condition, noting increased urinary porphyrin metabolites and decreased enzyme activity in affected family members.