Coagulation defect of congenital tyrosinaemia.
Three infants with hereditary tyrosinaemia had a severe coagulation defect due to a combination of deficient hepatic synthesis of clotting factors and a consumption coagulopathy. In all three plasma failed to clot normally with the venom of Bothrops atrox (Reptilase) and we attribute this to a defect of fibrinogen (dysfibrinogenaemia). Treatment was unsuccessful, and all died.
D000347:Afibrinogenemia / Q000150:complications; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D001778:Blood Coagulation Disorders / Q000150:complications*; D001779:Blood Coagulation Factors / Q000096:biosynthesis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000378:metabolism; D008297:Male; D014443:Tyrosine / Q000097:blood*
D001779:Blood Coagulation Factors; D014443:Tyrosine