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What is PKU is due to deficiency of which enzyme: and explain in detail?
Ans. (b) Phenylalanine hydroxylaseRef: Harrisons, 19th ed. pg. 434e1* PKU is an autosomal recessive disorder characterized by an increased concentration of phenylalanine and its byproducts in body fluids and by severe mental retardation if untreated in infancy.* It results from reduced activity of phenylalanine hydroxylase.* The accumulation of phenylalanine:# Inhibits the transport of other amino acids required for protein or neurotransmitter synthesis# Reduces synthesis and increases degradation of myelin, and leads to inadequate formation of norepinephrine and serotonin.* To prevent intellectual disability, diagnosis and initiation of dietary therapy must be started before 2 weeks of age