detection of phenylketonuria in sohag children
Phenylketonuria (PKU) is one of the commonest inborn error of metabolism, it is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. The diagnosis of this disorder can be confirmed by analysis of urine components. The present study aimed to assess the prevalence of PKU among ... Read more