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What is Enzyme deficient in tyrosinemia type 1 ? and explain in detail?
TyrosinemiaIt is a defect in metabolism of tyrosine. It may be of following types :-Tyrosinemia type-I (tyrosinosis/hepatorenal syndrome) :- It is due to defect in fumarylacetoacetate hydroxylase deficiency. Patients with chronic tyrosinosis are prone to develop cirrhosis and hepatic carcinoma. There is cabbage like odor in acute tyrosinosis.Tyrosinemia type - II (Richer-Hanha syndrome) :- It is due to deficiency of tyrosine transaminase (tyrosine aminotrans-ferase).Neonatal tyrosinemia : - It is due to deficiency of hydroxyphenyl pyruvate hydroxylase.