ABSTRACT
Hepatocellular degeneration leading to acute hepatic failure, or chronic cirrhosis and hepatocellular carcinoma; renal Fanconi syndrome; peripheral neuropathy; hypertyrosinemia; succinylacetonuria; and deficiency of fumarylacetoacetate hydrolase. The clinical course of hepatorenal tyrosinemia has generally followed of patterns: an acute or a chronic form. Hepatorenal tyrosinemia is transmitted in an autosomal recessive fashion. The molecular defect in hepatorenal tyrosinemia is in the hepatic fumarylacetoacetic acid hydrolase. Screening for hepatorenal tyrosinemia has been undertaken in a number of states and countries. The deficient enzyme is on the catabolic pathway for tyrosine, and this is the cause of the hypertyrosinemia. A diet low in tyrosine and phenylalanine is also necessary to avoid pathologic elevations of tyrosine. Screening for hepatorenal tyrosinemia has been undertaken in a number of states and countries. It has been incorporated into expanded tandem mass spectrometry programs with tyrosine as the key analyte.
