[Hereditary acute tyrosinemia. a case report (author's trnasl)].
A three month old infant with hepatic cirrhosis of rapid instauration is presented. Diagnosis of acute tyrosinemia was suspected by clinical data and confirmed by the quantitiative determination of plasma amino acids and the peculiar histological characteristics of hepatic cirrhosis. Authors review briefly the pathogenesis, symptoms and treatment of the disease.
D000208:Acute Disease; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics; D006801:Humans; D007223:Infant; D008103:Liver Cirrhosis / Q000235:genetics; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine
Tirosinemia aguda hereditaria. A propósito de una observación