Introduction , . . . . . ,, Günther's disease, also called congenital erythropoietic porphyria (CEP), is a very rare (less than 200 cases reported) type of porphyria (1, 2). Congenital Eur. J. Clin. Chem. Clin. Biochem. / Vol. 31,1993 / No. 3 erythropoietic porphyna is characterized by an overproduction of porphyrins of isomer I series, with accumulation of these compounds in bone marrow erythroblasts, teeth and bones (1,2). These porphyrins Verstraeten et al.: Fatal case of Günther9* disease in a newborn are excreted in excess in urine and faeces (1, 2). Patients with congenital erythropoietic porphyria show an inability to maintain the normal production of porphyrins of isomer III type, consistent with diminished activity of uroporphyrinogen III synthase1) (or cosynthetase or hydroxymethylbilane hydrolase cyclizing, EC 188.8.131.52) (3). Congenital erythropoietic porphyria is inherited as a Mendelian autosomal recessive trait (4). The onset of the majority of cases occurs before the 6th year of life and the main symptoms are cutaneous photosensitivity and haemolysis (5). Congenital erythropoietic porphyria is very rarely detected in utero or at birth (6, 7, 8). Our patient is a male premature neonate. Birth was induced at 32 weeks, because he presented in utero, inter
Clinical Chemistry and Laboratory Medicine – de Gruyter
Published: Jan 1, 1993
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