Abstract

ROSSETTI, María Victoria; PARERA, Victoria Estela; MELITO, Viviana Alicia  and  BATLLE, Alcira. Congenital Erythropoietic Porphyria in Argentina: 4 children and one late onset case. Acta bioquím. clín. latinoam. [online]. 2007, vol.41, n.3, pp.359-367. ISSN 0325-2957.

Porphyrias are metabolism disorders caused by a partial deficiency in one of the heme biosynthetic pathway enzymes. Congenital Erythropoietic Porphyria, also termed Günther disease, is extremely rare and is inherited as an autosomal recessive trait that results from the markedly deficient activity of the fourth enzyme in the heme biosynthetic pathway, Uroporphyrinogen III synthase (UROIII-S). This enzyme deficiency leads to an increased production and accumulation of the nonphysiological and phototoxic type I porphyrins responsible for the typical clinical manifestations. The disease severity is markedly heterogeneous, ranging from severe transfusion dependency throughout life to milder adult cases with only cutaneous photosensitivity. Only 200 cases have been described all over the world so far. In this work five Argentinean CEP patients are presented, 4 infantile and one late onset case, diagnosed in the CIPYP which are, as far as it is known, the only cases described in Argentina. Increased amounts of porphyrins were found in plasma, blood, urine and faeces, together with high amounts of the pathogenic type I isomer. Enzyme activity was reduced to 25-44% respect to normal values. Early diagnosis is important for correct treatment so as to prevent the characteristic mutilation of the disease and to improve patient´s life quality.

Keywords : heme; porphyrins; porphyrias; Congenital Erythropoietic Porphyria; uroporphyrinogen III synthase.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )