Gunther disease

Gunther disease, also written Günther disease, is the congenital form of erythropoietic porphyria. It is a rare, autosomal recessive metabolic disorder that affects heme, the iron-carrying pigment of blood, and it is caused by a deficiency of the enzyme uroporphyrinogen cosynthetase. The name porphyria comes from the Greek porphura, meaning purple pigment, a reference to the colour body fluids can take on. The condition is extremely rare, with a prevalence estimated at about one in a million or less. Porphyrins build up in the teeth and bones and are found in increased amounts in plasma, bone marrow, feces, red blood cells and urine. Before birth it can lead to anemia in the fetus, while milder cases may show no symptoms until adulthood. This entry is a record of the condition, not medical advice.