Phenylketonuria Phenylketonuria Phenylketonuria is the most common metabolic disorder in amino acid metabolism. Due to the deficiency of enzyme phenylalanine hydroxylase. Inheritance- Autosomal recessive disorder It is of 5 types- Type I (Classical phenylketonuria)- deficiency of phenyl hydroxylase Type II & III (Atypical phenylketonuria)- deficiency of dihydrobiopterin reductase. Type IV & V- deficiency of the enzyme […]
Phenylketonuria Q. 1 A child brought with seizures and impairment of development is diagnosed having phenylketonuria. What is the initial line of treatment in this child? A Dietary supply of deficient protein B Restriction of substrate of the deficient enzyme in the diet C Replacing the products D Dietary supply of deficient pro enzyme Q.
Phenylketonuria INTRODUCTION: Autosomal recessive metabolic genetic disorder Mutation in the gene for phenylalanine hydroxylase(PAH). Phenylalanine hydroxylase which converts phenylalanine to tyrosine is deficient in phenylketonuria. When PAH activity is reduced, phenylalanine accumulates and is converted into phenylpyruvate(phenylketone), which can be detected in the urine. Untreated PKU can lead to intellectual disability, seizures, and other serious
Phenylketonuria Q. 1 In Phenylketonuria the main aim of first line therapy is: A Replacement of the defective enzyme B Replacement of the deficient product C Limiting the substrate for deficient enzyme D Giving the missing amino acid by diet Q. 1 In Phenylketonuria the main aim of first line therapy is: A Replacement of
