Razumevanje problema fenilketonurije kroz istoriju

Abstract

Phenylketonuria (PKU) is an autosomal recessive, metabolic disease that leads to mental retardation and other neurological problems, when treatment is not started within the first few weeks of life. It occurs due to the lack of phenylalanine hydroxylase enzyme (PAH) and phenylalanine is accumulated in the body, and the tyrosine level decreases. An excessive amount of phenylalanine in the bloodstream leads to brain damage in children. Insufficient tyrosine leads to a decrease in the production of melanin pigments, so children with PKU are blond, with soft white skin and blue eyes. Phenylalanine is excreted in the form of phenylketone in the urine. Due to these ketones, sweat and urine of sufferers have a stronger smell than of a healthy persons (resembling budding). The Guthrie test is carried out as a mass, screening method for phenylketonuria and it is a part of mandatory national child health care program. Treatment is carried out by a diet that limits the intake of phenylalanine.