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PCT, the most common form of porphyria, comes in two clinical familial and a sporadic form:
Iron overload is frequently present in PCT and may be associated with varying degrees of damage of the liver.
A severe form of PCT, hepatoerythropoietic porphyria (HEP), has its onset in infancy with the accumulation of protoporphyrin in the red blood cells. The level of the enzyme UROD is very low in red cells.
The UROD gene has been mapped to 1p34. Mutations have been identified in the UROD gene, including DNA base substitutions and deletions. These mutations result in reduced activity of the enzyme. Some mutation result in PCT and others in the recessively inherited HEP. HEP is the homozygous form of familial PCT.
Treatment is directed first at reducing iron overload by regular phlebotomy (removal of blood). Then treatment with the drug chloroquine usually induces rapid remission that is sustained while chloroquine is continued in regular low doses.
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