Abstract
Tyrosinemia was diagnosed in an 8 month old white male infant with liver disease based on: plasma tyrosine(TYR) >6 times normal, high α-fetoprotein(αFP) and liver biopsy findings of post necrotic cirrhosis with fatty change and moderate parenchymal siderosis. Within 3 days of institution of the recommended 3200 AB formula, TYR decreased to normal but plasma methionine(MET) increased 16 times normal. Concornittant with elevation in MET was worsening of liver disease with severe cholestasis as evidenced by marked elevations of serum bile acids(SBA) and gamma glutamyl transpeptidase(GGT) with a mild increase in transaminase(ALT). This resolved when dietary MET content was decreased and MET became normal. αFP however, considered a marker of hepatic regeneration following hepatocellular necrosis, did not increase further during this episode. This suggests 1) High MET may be as important as high TYR in the liver disease associated with Tyrosinemia; 2) Effect of high MET appeared to be cholestatic rather than hepatocellular injury. This suggests caution in using the low TYR, high MET formula designed for dietary management of this disease.
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