Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations
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 unde...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426918301484 |
| _version_ | 1818485194706911232 |
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| author | A. Moghe V.M.S. Ramanujam J.D. Phillips R.J. Desnick K.E. Anderson |
| author_facet | A. Moghe V.M.S. Ramanujam J.D. Phillips R.J. Desnick K.E. Anderson |
| author_sort | A. Moghe |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T16:05:19Z |
| format | Article |
| id | doaj.art-3eb1ce13b80e4c5b887561d84b7002e4 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-10T16:05:19Z |
| publishDate | 2019-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-3eb1ce13b80e4c5b887561d84b7002e42022-12-22T01:42:15ZengElsevierMolecular Genetics and Metabolism Reports2214-42692019-06-0119Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutationsA. Moghe0V.M.S. Ramanujam1J.D. Phillips2R.J. Desnick3K.E. Anderson4Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, TX, USADepartment of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, TX, USADepartment of Medicine, University of Utah, Salt Lake City, UT, USADepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mt. Sinai, New York, NY, USADepartment of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, TX, USA; Corresponding author at: Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, TX 77555-1109, USA.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.http://www.sciencedirect.com/science/article/pii/S2214426918301484 |
| spellingShingle | A. Moghe V.M.S. Ramanujam J.D. Phillips R.J. Desnick K.E. Anderson Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations Molecular Genetics and Metabolism Reports |
| title | Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations |
| title_full | Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations |
| title_fullStr | Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations |
| title_full_unstemmed | Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations |
| title_short | Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations |
| title_sort | harderoporphyria case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase cpox mutations |
| url | http://www.sciencedirect.com/science/article/pii/S2214426918301484 |
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