Missouri votes to add 5 diseases to newborn screenings May 11, 2009
Hospitals take blood samples from newborns and pay 50 per sample to the state health to check for dozens of diseases such as cystic fibrosis, sickle cell and maple syrup urine disease a metabolic disorder that can be fatal or cause mental retardation and physical disabilities. Missouri lawmakers voted to add to the newborn screening list: Krabbe, Pompe, Gaucher, Niemann-Pick and Fabry, which are among the roughly 50 lysosomal storage diseases. (Jefferson City News Tribune, MO)
Domino liver transplant saves lives of two kids Feb 22, 2009
Chairman of the hospital, B K Rao, claimed with the transplants, Shourya is India's first and the world's youngest recipient of a living donor liver transplant for Maple Syrup Urine Disease, and Siya the country's first and the world's youngest recipient of a domino liver transplant ... "Maple Syrup Urine Disease is caused by a lack of an enzyme in the body, a patient with the disease who receives a liver transplant is able to make enough of the enzyme in the new liver to compensate the shortage... (Hindu)
Delhi: Rare liver surgeries on kids Feb 20, 2009
While 22-month-old Shourya was cured of Maple Syrup Urine Disease (MSUD) -- a highly rare inherited metabolic disorder that causes mental retardation and death -- by a transplant performed using 20% of his aunt's liver, his own liver was, in turn, transplanted into three-year-old Siya, who was battling end-stage liver failure due to another rare condition called Langerhans Cell Histiocytosis (LCH). The surgeries were conducted on January 31. (India Times, India)
Liver Transplant: Improvement in Detection And Diagnosis Of Biliary Atresia In Children Jan 9, 2008
10, 2006) Liver transplants cured the metabolic symptoms of 11 patients with a rare but devastating genetic condition known as Maple Syrup Urine Disease (MSUD), according to a study by researchers from. . (Science Daily)
Pittsburgh hospital performs rare liver transplant Jul 19, 2007
Johnathan Devantier, 9, of St. Louis, was diagnosed as a newborn with maple syrup urine disease, in which the body can't process certain amino acids ... Devantier's maple syrup urine disease was not passed to the other recipient in the surgery, said Dr. George V. Mazariegos, director of pediatric transplantation at the hospital's Hillman Center for Pediatric Transplantation ... The procedure was the third domino transplant ever involving a patient with maple syrup urine disease, according to the... (NEPA News, PA)
Newborn testing expands to more states, disorders Jul 11, 2007
They range from cystic fibrosis and sickle cell anemia to rare metabolic disorders such as maple syrup urine disease. They were chosen because they can be detected in newborns and treated. (USA Today -- News)
Blue glow signifies life in peril in Pennsylvania Dutch country May 23, 2007
Maple syrup urine disease ... The child has maple syrup urine disease, a rare enzyme deficiency that causes his urine and ear wax to smell like maple syrup. (Columbus Telegram, NE)
* Look to the light May 22, 2007
" Morton is speaking not just of Crigler-Najjar syndrome, but of the many other rare disorders seen in the clinic. Maple syrup urine disease. Glutari aciduria. Pigeon breast disease. Pretzel syndrome. Many are fatal if undetected. Like Crigler's, many are so unusual they are simply not recognized by general pediatricians. "God sent Dr. Morton to us," says Norman Burkholder, after leaving his mules and plow one day to bring in his sick 9-year-old son. The child has maple syrup urine disease, a... (Taipei Times, Taiwan -- World Business)
