Gunther disease
| Gunther disease | |
| ICD-10 | E80.0 |
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| OMIM | 263700 |
| DiseasesDB | 3048 |
| eMedicine | derm/145 |
| MeSH | D017092 |
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Gunther disease, or Gunther's disease, is a congenital form of erythropoietic porphyria. It is a rare, autosomal recessive[1] metabolic disorder of heme caused by deficiency of the enzyme uroporphyrinogen cosynthetase.
Eponym
It is named for Hans Gunther.[2]
References
- ↑ Deybach JC, De Verneuil H, Boulechfar S, Grandchamp B, Nordmann Y (1990). "Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease)". Blood. 75 (9): 1763–5. ISSN 0006-4971. PMID 2331520.
- ↑ Madan P, Schaaf CP, Vardhan P, Bhayana S, Chandra P, Anderson KE (2007). "Hans Gunther and his disease". Photodermatol Photoimmunol Photomed. 23 (6): 261–3. doi:10.1111/j.1600-0781.2007.00323.x. PMID 17986065.