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Is there any cure for diseases detected in newborn babies?

hi doc is there s a cure for those diseases that are detected through newborn screening ?
Asked On : Thu, 8 Mar 2012
Answers:  1 Views:  165
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Pediatrician 's  Response
Dear Enquirer to answar your question I should mention some of the deseases detected in newborn screening which are not curable but treatable. These are (1)Phenyalketoneuria in this condition there is an enzyme which is absent that is called Phenyalalanine hydroxylase. As a result the level of this aminoacid togather with two other aminoacids levels rise in the blood and that damage the brain.(2)Galactosaemia. This is caused by absence of enzyme which breakdown milk sugar galactose to glucose in the liver and leads to liver,kidney and brain damage (3)Maple syrup urine desease this is caused by the absence of enzyme need to breakdown aminoacids lucine isolucine and valine. High level of these aminoacids leads to brain damage (4)Biotinase defficiency leads to loss of metabolism of Biotin(Vit H) which leads to hearing lossmental retardation. Some other conditions can be detected by screening and treated eg sickle cell desease,congenital adrenal hypoplacia, underactive thyroid and can be treated.Other conditions eg PKU, Galactasemia ect should have special diets and vitamin supplements. Curables are congenital heart deseases(CHD) now is claimed to be 75% with successful surgery. I hope these informations will be helpful. Regards.
Answered: Mon, 23 Apr 2012
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