This document discusses the molecular basis of three genetic diseases: phenylketonuria (PKU), alkaptonuria, and albinism. PKU is caused by a defect in the enzyme phenylalanine hydroxylase, leading to increased phenylalanine levels and potential mental retardation if left untreated. Alkaptonuria is caused by a defect in homogentisate 1,2-dioxygenase, causing a buildup of homogentisic acid and darkening of connective tissues over time. Albinism is caused by defects in enzymes involved in melanin production, resulting in little to no pigmentation in hair, skin, and eyes.

1. Molecular basis of disease Presented by S.Mohammed Razeeth

5. Metabolic pathway

9. Guthrie test

11. Treatment

12. pku