Clinical Aspect of Phenylkeatnuria-Comprehensive Review

Abstract

This paper describes the history and clinical manifestation of the Phenylketanuria(PKU).The PKU is caused by a specific PAH gene mutation and is a recessive autosomal genetic disease that is mainly inheritedwithin families.Because of the absence of the action of enzyme Phenylalanine hydroxylase it result in this genetic disorder, it causes serious brain damage.

Keywords: Phenylketanuria(PKU),recessive autosomal genetic disease, inherited, families, genetic disorder, brain damage.