Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations

Publication date: June 2019Source: Molecular Genetics and Metabolism Reports, Volume 19Author(s): A. Moghe, V.M.S. Ramanujam, J.D. Phillips, R.J. Desnick, K.E. AndersonAbstractA 78-year-old man with a history of neonatal anemia and jaundice and life-long photosensitivity was found to have harderoporphyria, as evidenced by increased porphyrins in urine, plasma, erythrocytes and feces including large amounts of harderoporphyrin in feces and erythrocytes. Two previously undescribed coproporphyrinogen oxidase (CPOX) mutations were identified, including a deletion of four amino acids in a region of the enzyme mutated in 7 of the 8 previously reported cases. This case increases the molecular heterogeneity of this rare porphyria, and illustrates that it should be considered as a cause of chronic photosensitivity and porphyrin elevation at any age.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research