`phenylalanine` Related Article Results

Phenylketonuria (PKU) is an autosomal recessive inherited metabolic disorder caused by the deficiency or insufficiency of the enzyme phenylalanine hydroxylase (PAH), which results in the inability to metabolize the amino acid phenylalanine. This enzyme deficiency leads to the accumulation of phenylalanine in the body and its toxic effects road. If not diagnosed and treated promptly, diagnosis severe intellectual and neurological delays can develop. Etiology The PAH enzyme converts phenylalanine