Ernest Beutler, 80, pioneer in bone marrow transplants Oct 11, 2008
One such disorder is galactosemia, a rare hereditary enzyme deficiency in which individuals are unable to metabolize galactose, a sugar found in milk. He developed a test for the disease in carriers and newborns and identified a variant of the disease gene that was harmless but could be confused with the genuine item. (Boston Globe)
Lab to find newborn's genetic defects Sep 8, 2008
NEW DELHI: A first of its kind laboratory to diagnose genetic disorders in newborns was recently started at Lok Nayak Hospital. Doctors say that nearly 400 different genetic defects in newborns can be diagnosed at this genetic lab with just a few drops of their blood. (India Times, India -- Health/Science)
Why Should You Breastfeed? Sep 3, 2008
Homozygous galactosemia: This genetic disorder prevents the complete breakdown of lactose (milk sugar); increasing levels of galactose lead to cirrhosis, kidney failure, and brain damage. Affected infants (about 1 in 50,000) must be fed a soy-based formula. (Suite101.com)
Three Required Newborn Tests May 18, 2008
New Babies are Checked For Hypothyroidism, PKU, and Galactosemia ... Three tests that are routine and required include screenings for hypothyroidism, PKU, and galactosemia ... Galactosemia is an inherited disorder with a rate of around 1 of every 7,500 live births. (Suite101.com)
Jeannie Babb Taylor: International expert: Breastfeeding is normal, formula is inferior, and birth makes the difference Apr 3, 2008
Only in cases where human milk is impossible or the baby cannot digest breastmilk (such as with galactosemia), should formula even be considered. If formula feeding is so inferior, why aren t American doctors and health authorities warning of the dangers. (WWalker County Messenger, GA)
Top Scientists to Receive Prestigious Awards From the American Society of Hematology Dec 6, 2007
He also developed screening tests for the genetic disorders galactosemia and Gaucher disease. He is currently Professor and Chairman, Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA. Dr. Beutler's award will be presented prior to the Plenary Scientific Session on Sunday, December 9, at 1:30 p.m. EST in Hall A1. (PR Newswire)
Most US Newborns Now Screened for Genetic Disease Jul 12, 2007
Sickle cell anemia, congenital hypothyroidism, cystic fibrosis, hearing loss, phenyiketonuria (PKU, an enzyme deficiency), congenital adrenal hyperplasia, and galactosemia (another enzyme deficiency) are some of the most common genetic conditions included in the American College of Medical Genetic's list of 29 recommended screenings. The screening test for 28 of the conditions involves taking a drop of blood from a newborn's heel before the baby leaves the hospital. (Forbes)
Doctor promotes blood tests for babies Apr 27, 2007
Diseases like congenital adrenal hyperplasia and galactosemia, both enzyme disorders, are urgent. Untreated, a baby can die within weeks. (Albany Times Union)
