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What is A child presents with hepatomegaly and bilateral lenticular opacities. Deficiency of which of the following enzyme will NOT cause such features: and explain in detail?
This is a case of galactosemia in which Liver is affected Oil drop cataract occurs. Glucokinase is not an enzyme of galactose metabolism. Rest all are enzymes of galactose metabolism, which can be deficient in galactosemia. GALACTOSEMIA: Galactose-1-phosphate uridyl transferase deficiency leads to classical galactosemia.It is an autosomal recessive disorder. Urinary reducing sugar (Benedict's test) and Mucic acid test is positive. Treatment is galactose - free diet.