Shahdeed Beheshti University of Medical Sciences,Iran.
Abstract: (1341 Views)
SUMMARY
Early detection and prompt diet therapy is essential for normal mental development of the phenylketonurics. In spite of the congenital metabolic defect, patients affected with classic PKU appear normal at birth and will develop serious mental retardation if untreated and cause much emotional, social and financial burdens on their families and the society. For these reasons, in developed countries all the newborns are screened for PKU and the affected infants are detected and treated immediately.
To find out the time and the method of PKU detection in Iran, which lacks a national screening program, 88 affected patients were considered for this study. The majority of these patients were brought to the at this time the patients show clear signs of the PKU phenotype and have already manifested some degree of mental handicap, on the average it have taken the physicians 16 more months to detect the disease. This means that the average age of PKU detection in Iran is about 26 months, an age in which che patients have developed a serious and irreversible mental handicap.
Early detection and treatment of the PKU patients can eleminate most of the emotional, social and financial burdens caused on their families and our society. Therefore we strongly suggest that after appropriate research, a suitable national screening program for PKU to be designed and put into practice ; soon as possible.