Phenylketonuria

Abstract

The interest of geneties diseases is inereasing in the developted countries while the control of infectious and soeiables diseases carried out more effective. Recent date" prove about 50% of lhe perinatal dies oceur by genetics causes. Furthermore, one third of the adults cronies diseases are attribute to genetics factors. Are esteem in about 50.000 to 100.000the ours genes, disperse as 23 pairs of chromosomes which are responsable by the hereditaries attributes. By the other hand, its are already know about 6000 geneties diseases, the greateryet no treated". The great challenge ofthe genectecists are been identify our
genes and to understand what are the mechanisrn which cause genetic pathology and while don't have effective treatrnent, to prevent the birth of new affected.
The amino and organic acid are lhe rnetabolic inborn errors more frequent in lhe neonatal period. In Gennany, about 1:15000 of childhood are diagnosticated as organoacidpathies bearer'. Mainly in the organoacidpathies there are more evidences that this number must be greater.