Congenital erythropoietic porphyria (CEP), Uroporphyrinogen III synthase deficiency and UROS deficiency[1][2]
Brown discoloration of the teeth caused by porphyrin accumulation which will fluoresce under Wood's lamp (Erythrodontia).
Specialty
Hematology, dermatology
Gunther disease is a congenital form of erythropoietic porphyria. The word porphyria originated from the Greek word porphura. Porphura actually means "purple pigment", which, in suggestion, the color that the body fluid changes when a person has Gunther's disease.[3] It is a rare, autosomal recessive[4] metabolic disorder affecting heme, caused by deficiency of the enzyme uroporphyrinogen cosynthetase.[5] It is extremely rare, with a prevalence estimated at 1 in 1,000,000 or less.[6] There have been times that prior to birth of a fetus, Gunther's disease has been shown to lead to anemia. In milder cases patients have not presented any symptoms until they have reached adulthood. In Gunther's disease, porphyrins are accumulated in the teeth and bones and an increased amount are seen in the plasma, bone marrow, feces, red blood cells, and urine.[7][8]
^Online Mendelian Inheritance in Man (OMIM): 263700
^James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 526. ISBN 978-0-7216-2921-6.
^King, Michael. "Introduction to Congenital Erythropoietic Porphyria". Medical Biochemistry Page. Retrieved 30 November 2012.
^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. doi:10.1182/blood.V75.9.1763.1763. ISSN 0006-4971. PMID 2331520.
^Robert-Richard E, Moreau-Gaudry F, Lalanne M, et al. (January 2008). "Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells". Am. J. Hum. Genet. 82 (1): 113–24. doi:10.1016/j.ajhg.2007.09.007. PMC 2253957. PMID 18179890.
^Thadani, H.; Deacon, A.; Peters, T. (2000). "Diagnosis and management of porphyria". BMJ. 320 (7250): 1647–1651. doi:10.1136/bmj.320.7250.1647. PMC 1127427. PMID 10856069.
^Burzio, Chiara. "Gunther's Disease". Retrieved November 28, 2012.
^Gorchein, Abel; Rong Guo; Chang Kee Lim; Ana Raimundo; Humphrey W.H. Pullon; Alastair J. Bellinham (18 January 1999). "Porphyrins in urine, plasma, erythrocytes, bile and faeces in a case of congenital erythropoietic porphyria (Gunther's disease) treated with blood transfusion and iron chelation: lack of benefit from oral charcoal". Biomedical Chromatography. 12 (6): 350–356. doi:10.1002/(SICI)1099-0801(199811/12)12:6<350::AID-BMC761>3.0.CO;2-B. PMID 9861496.
Guntherdisease is a congenital form of erythropoietic porphyria. The word porphyria originated from the Greek word porphura. Porphura actually means...
reactions. Congenital erythropoietic porphyria (CEP), also known as Günther'sdisease, results from a deficiency in uroporphyrinogen III synthase. This...
up in a place protected from the sun's rays, since he suffers from Guntherdisease, he will die if the sun hits him. Furthermore, Marcos and Paula's grandfather...
Waterborne diseases are conditions (meaning adverse effects on human health, such as death, disability, illness or disorders): 47 caused by pathogenic...
ISBN 978-0-78-179256-1. "Hypertrichosis lanuginosa congenita - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. 2021. Retrieved...
Gunther von Hagens (born Gunther Gerhard Liebchen; 10 January 1945) is a German anatomist, businessman and lecturer. He developed the technique for preserving...
André Strohl Gunther'sdisease – Hans Gunther Hailey–Hailey disease – Hugh Edward Hailey, William Howard Hailey Hallervorden–Spatz disease – Julius Hallervorden...
is another disorder of dentin. Congenital erythropoietic porphyria (Guntherdisease) is a rare congenital form of porphyria, and may be associated with...
1962 – October 24, 2021) was an American actor best known for portraying Gunther on the NBC sitcom Friends. Prior to acting, he was an assistant film editor...
Wolf Gunther Plaut, CC OOnt (November 1, 1912 – February 8, 2012) was an American Reform rabbi and writer who was based in Canada. Plaut was the rabbi...
Another gene, SMN2, is considered a disease modifying gene, since usually the more the SMN2 copies, the milder is the disease course. The diagnosis of SMA is...
German diplomat/spy she had known before the war, Baron (Freiherr) Hans Günther von Dincklage. And following her nephew's release, she collaborated in...
infectious disease, and that the germ theory of disease is wrong. It usually involves arguing that Louis Pasteur's model of infectious disease was wrong...
syndrome (HCPS), while others have not been associated with known human disease (e.g. Prospect Hill virus). HPS (HCPS) is a "rare respiratory illness associated...
Barbados by De Filippi in 1861. It was named Girardinus guppii by Albert Günther in honor of Robert John Lechmere Guppy, who sent specimens of the species...
Ivan Kapitanets, and its military version; designer Vladimir Bulanov; Günther Jörg of Germany; the possible Spasatel; the Naval Air Warfare Center at...
Global Information
