Tyrosinemia type I is a rare inborn error of metabolism resulting in death by liver failure and/or hepatocellular carcinoma. NTBC therapy is being investigated for treatment of tyrosinemia type I. Currently one patient at the University of Michigan is being treated. Our results in this patient show a dramatic diminution in the excretion of succinylacetone and in the plasma alpha-fetoprotein and tyrosine.
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