Get your Health question answered in 3 easy steps
A Doctor will be with you shortly
Ask a Doctor Now
173 Doctors are Online

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
Report Abuse
Share on Facebook
Share on Twitter
Share on Google+
Question is related to
Diseases and Conditions
Medical Topics
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
I find this answer helpful
Disclaimer: These answers are for your information only and not intended to replace your relationship with your treating physician.
This is a short, free answer. For a more detailed, immediate answer, try our premium service [Sample answer]


Loading Online Doctors....
© Ebix, Inc. All Rights Reserved.
All the information, content and live chat provided on the site is intended to be for informational purposes only, and not a substitute for professional or medical advice. You should always speak with your doctor before you follow anything that you read on this website. Any health question asked on this site will be visible to the people who browse this site. Hence, the user assumes the responsibility not to divulge any personally identifiable information in the question. Use of this site is subject to our Terms & Conditions
Already Rated.
Your rating:

Ask a Doctor