A deficiency in the activity of uroporphyrinogen decarboxylase (UROD), the fifth enzyme of the haem biosynthetic pathway, is found in familial porphyria cutanea tarda (F-PCT) and hepatoerythropoietic porphyria (HEP). A new mutation (R292G) and a deletion have been found in a pedigree with two HEP patients (two sisters). The R292G mutation was not detected in 13 unrelated affected patients with F-PCT, so it appears to be uncommon. The possibility that the arginine 292 may participate at the active site of the enzyme is discussed. A summary of the 7 mutations/deletions found in the UROD gene with their frequency is presented.

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Persistent URL dx.doi.org/10.1007/BF00219182, hdl.handle.net/1765/58484
Journal Human Genetics
de Verneuil1, H, Bourgeois, F, de Rooij, F.W.M, Siersema, P.D, Wilson, J.H.P, Grandchamp, B, & Nordmann, Y. (1992). Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. Human Genetics, 89(5), 548–552. doi:10.1007/BF00219182