HYPERTRANSAMINASEMIA AND ORNITHINE TRANSC ARBAMYLASE DEFICIENCY

The Authors report 4 girls with hypertransaminasemia and hepatic failu re; in three patients the initial diagnosis was of unknow origin hepat itis, after the exclusion of the most frequent infectious and metaboli c hepatic diseases, in one girl the assay of blood ammonia at the begi nning oriented to an urea cycle disorder. Plasma ammonia, aminoacids a nd urinary orotic acid levels in all the patients agree with the diagn osis of Ornithine Transcarbamylase deficiency (OTCD), an X-linked unbo rn error of metabolism. The Authors also report the investigations in female subjects of the families with allopurinol challenge test and mo lecolar study of DNA in two families. The Authors underline the import ance of considering in patients with hepatic diseases an inborn error of metabolism: in girls with hepatic imbalance OTCD, a defect of the s econd step of the urea cycle, should always be taken into consideratio n.