Use of inhibitors of porphobilinogen deaminase in the treatment of congenital erythropoietic porphyria

摘要

The invention relates to the use of a compound of general formula (I), wherein R1 and R2 are independently H or C1-C6 alkyl, or R1 and R2 are bound to one another forming an optionally substituted fused benzene ring, R3 is H, C1-C6 alkyl or —CH2— CH(NH2)—COOH and R4 is H, C1-C6 alkyl, or R4 represents (II) or (III) in the preparation of a medicinal product for treating and/or preventing congenital erythropoietic porphyria (CEP).;

主权项

1. A method for the treatment of congenital erythropoietic porphyria (CEP) in a subject in need thereof comprising the administration to said subject of a therapeutically effective amount of a compound of formula (I)wherein
R1 and R2 are independently selected from the group consisting of H and C1-C6 alkyl, or R1 and R2 are bound to one another forming an optionally substituted fused benzene ring, R3 is selected from the group consisting of H, C1-C6 alkyl and R4 is selected from the group consisting of H and C1-C6 alkyl, or R4 represents