A RARE CASE OF TYROSINEMIA TYPE I
Abstract
Tyrosinemia type1 is a rare autosomal recessive metabolic disorder, characterized by the lack of enzyme fumaryl acetoacetate hydrolase which is involved in metabolism of aminoacid tyrosine. This lead to abnormal accumulation of tyrosine and its metabolites in the liver, leading to liver disease. Tyrosinemia has rarely been reported in india due to lack of diagnostic facilities. We present a case of tyrosinemia type1 confirmed with plasma and urinary succinylacetone.
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