The enzyme deficient in Phenyl Ketonuria is:
Ref: Harpers illustrated Biochemistry, 28th editionExplanation: (See figure below)Tetrahydro biopterin (H4B) dependent reaction.In case of deficiency of phenyl alanine hydroxylase, phenyl alanine is converted in to phenylpyruvate & phenylacetate. accumulation of which results in phenyl ketonuria. FeaturesMental retardationLight color skin & hairEczema & seizures| Plasma phenylalanine| Phenylacetate & phenyl pyruvate in urineTreatment consists of limiting phenylalanine intake to levels barely adequate to support growth. Tyrosine, an essential nutrient for individuals with phenylketonuria, must be supplied in the diet.
Phenylalanine dehydrogenase
Phenylalanine hydroxylase
Tyrosine hydroxylase
Dihydrobiopted n
Amino Acid Metabolic Disorder