الفهرس Only 14 pages are availabe for public view
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Abstract
For many types of genetic or metabolic diseases, early diagnosis and treatment are critical. Although babies born with these disorders may appear to be normal at birth, with time the disorder may have a devastating or lethal effect on the infant’s health and development. Early screening, detection and treatment of these disorders can, in most cases, result in normal growth and development Nowadays, a heel prick is used to take a sample of blood from practically all newborns to screen them for common endocrinal and metabolic disorders: phenylketonuria (PKU), congenital hypothyroidism (CHT) and galactosemia Early diagnosis is necessary with metabolic diseases of this kind so that timely treatment can be given to prevent irreversible damage to health Parents can also be informed about the likelihood of a repetition with any subsequent child In the present study, we tried to screen newly born infants of the ten centers of Minoufiya governorate from January to December 2007 for one of the most common endocrinal disorders in Egypt, congenital hypothyroidism and one of the most common metabolic disorders phenylketonuria and galactosemia Because of :large number of newly born infants, we should collect and screen, high cost of fitter paper cards, high cost of fluorometric analysis kits and Administrative and institutional consent, we had collaborated with central laboratories of Ministry of Health and Population.