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

A. Moghe, V. M.S. Ramanujam, J. D. Phillips, R. J. Desnick, K. E. Anderson

Research output: Contribution to journalArticle

Abstract

A 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.

Original languageEnglish (US)
Article number100457
JournalMolecular Genetics and Metabolism Reports
Volume19
DOIs
StatePublished - Jun 2019

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

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