Hospital Offers Comprehensive Program for Diagnosing and Treating More Than 40 Inborn Errors of Metabolism and Other Genetic Conditions
Apr 22, 2011
The New York State Department of Health has announced that NewYork–Presbyterian Morgan Stanley Children's Hospital/Columbia University Medical Center is a designated Inherited Metabolic Disease Specialty Center — one of only nine in the state.
Within 48 hours of birth, all babies are screened for 40 inborn errors of metabolism — genetic defects that interfere with their ability to process substances like carbohydrates, proteins and fats.
"One in every 3,000 babies is born with an inborn error of metabolism. Our goal is to help these children and their parents have the opportunity to build healthy lives, improve their quality of life, and minimize the burden of their disease," says Dr. Wendy Chung, director of clinical genetics at NewYork–Presbyterian Morgan Stanley Children's Hospital/Columbia University Medical Center and the Herbert Irving Assistant Professor of Pediatrics in Medicine at Columbia University College of Physicians and Surgeons.
Following a multidisciplinary approach, the Biochemical Genetics Program specialists provide treatment specific to each patient's metabolic condition. This may include dietary management with a metabolic nutritionist, enzyme replacement therapy and, in advanced cases, transplantation for bone marrow, liver, kidney or heart.
"Our program offers enrollment in cutting–edge clinical trials and research studies for many of these rare disorders," says Dr. Chung. "Reproductive planning is also available, ensuring that patients with metabolic disorders, or parents of a child with a disorder, will have healthy children."
The team includes a metabolic nurse, registered dietitian, social worker and genetic counselor. Other specialists include gastroenterologists, cardiologists, neurologists, orthopedic surgeons, ophthalmologists, pulmonologists and transplant surgeons.
For more information, patients may call 866-NYP–NEWS.
Inborn Errors of Metabolism
Inborn errors of metabolism, also known as congenital metabolic diseases or metabolic disorders, are usually due to defects of single genes that code for enzymes that break down and build up chemicals in the body. In most of the disorders, problems arise due to an accumulation of chemicals that are toxic or interfere with normal body functions, or lead to a deficiency in essential chemicals. The earliest screening for a congenital metabolic disease, phenylketonuria (PKU), was pioneered in the early 1960s and established using blood samples on filter paper obtained by pricking a newborn baby's heel on the second day of life. Screening newborns for genetic disease continues today and has expanded. The development of tandem mass spectrometry screening in the early 1990s led to a large expansion of potentially detectable congenital metabolic diseases. Additional tests have been added to many screening programs over the last decade. Newborn screening has been adopted by most countries around the world, though the lists of screened diseases vary widely.
NewYork–Presbyterian/Morgan Stanley Children's Hospital
NewYork–Presbyterian/Morgan Stanley Children's Hospital, located in New York City, offers the best available care in every area of pediatrics — including the most complex neonatal and critical care, and all areas of pediatric subspecialties — in a family–friendly and technologically advanced setting. Building a reputation for more than a century as one of the nation's premier children's hospitals, Morgan Stanley Children's Hospital is affiliated with the Department of Pediatrics at Columbia University College of Physicians and Surgeons, and is Manhattan's only hospital dedicated solely to the care of children and one of the largest providers of children's health services in the tri–state area with a long–standing commitment to its community. It is also a major international referral center, meeting the special needs of children from infancy through adolescence worldwide. New York–Presbyterian Hospital also comprises New York–Presbyterian Hospital/Columbia University Medical Center, New York–Presbyterian Hospital/Weill Cornell Medical Center, New York–Presbyterian Hospital/Westchester Division and New York–Presbyterian/The Allen Hospital. New York–Presbyterian is the #1 hospital in the New York metropolitan area and is consistently ranked among the best academic medical institutions in the nation, according to U.S. News & World Report.