Uroporphyrinogen decarboxylase deficiency

Egger, N.G., Goeger, D.E., Payne, D.A., Miskovsky, E.P., Weinman, S.A., Anderson, K.E. Porphyria cutanea tarda. Multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. Dig. Dis. Sci. 2002 47 419-426... 

Deficiencies of other enzymes in the heme pathway produce porphyrias in which photosensitivity is a common finding. Chronic inflammation to overt blistering and shearing in exposed areas of the skin characterize these porphyrias. The most common is porphyria cutanea tarda (deficiency of uroporphyrinogen decarboxylase). 

A chronic disease caused by a deficiency in uroporphyrinogen decarboxylase. 

This is a very rare form of chronic hepatic porphyria. As with PCT, the enzymatic defect is a deficiency of uroporphyrinogen decarboxylase. However, the genetic defect is homozygous. It may also be caused by exogenous factors. HEP manifests in early childhood with high photosensitivity, sclerodermia, hypertrichosis and anaemia. The liver shows red fluorescence. Histologically, siderosis and non-specific hepatitis are found. Development of cirrhosis is possible. No effective therapy is known. (314, 316)... 

Porphyria cutanea tarda is the most common form. It is inherited as an autosomal dominant trait and is due to deficiency of uroporphyrinogen III decarboxylase. Clinical... 

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