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What is Guthrie test is done in neonates for mass screening of and explain in detail?
Phenylketonuria is a disorder of amino acid metabolism. This is an autosomal recessive trait in babies who are homozygous with a deficiency in the enzyme phenylalanine hydrolase which normally conves phenylalanine to tyrosine. Mass screening of blood phenylalanine in neonates is performed by the Guthrie test. Ref: Park; 23rd ed; Pg 535