Gunther's disease

Gunther's disease Classification and external resources
ICD-10	E 80.0
OMIM	263700
DiseasesDB	3048
eMedicine	derm/145
MeSH	D017092

Gunther's disease is a form of erythropoietic porphyria. It is a rare, autosomal recessive^[1] congenital disease caused by deficiency of the enzyme uroporphyrinogen cosynthetase.

Gunther's disease has an autosomal recessive pattern of inheritance.

[edit] Eponym

It is named for Hans Gunther.^[2]

^ Online 'Mendelian Inheritance in Man' (OMIM) 263700
^ Madan P, Schaaf CP, Vardhan P, Bhayana S, Chandra P, Anderson KE (December 2007). "Hans Gunther and his disease". Photodermatol Photoimmunol Photomed 23 (6): 261-263. doi:10.1111/j.1600-0781.2007.00323.x. PMID 17986065.

v • d • e Heme metabolism disorders (E80, 277.1, 277.4)

Porphyrin	Hepatic porphyria: Acute intermittent - Cutanea tarda/Hepatoerythropoietic - Hereditary copro- - Variegate Erythropoietic: Gunther's

Hereditary hyperbilirubinemia	Unconjugated: Lucey-Driscoll syndrome - Gilbert's syndrome - Crigler-Najjar syndrome Conjugated: Dubin-Johnson syndrome - Rotor syndrome

see also porphyrin metabolism enzymes, intermediates