United States

Footnotes

• For more information on the core disorders, see the August 2004 report Newborn Screening: Toward a Uniform Screening Panel and Systems, developed by the American College of Medical Genetics and Evidence Review report on SCID, prepared by the Advisory Committee on heritable Disorders in Newborns and Children.

• For more detailed information on newborn screening status, please see the National Newborn Screening Status Report developed by the National Newborn Screening and Genetics Resource Center.

• MSUD = Maple syrup urine disease

• This inborn error of metabolism can be lethal if unrecognized and untreated. There is a wide spectrum of clinical presentations, from mild to severe. Affected babies appear normal at birth but soon begin to have neurological symptoms. The disorder gets its name from the fact that the urine smells like maple syrup. Without dietary treatment, severely affected babies do not survive the first month; even those who do receive treatment may have irreversible mental retardation. Rapid diagnosis and treatment are major factors in survival and outcome. Treatment consists of a special low-protein diet, which will vary depending on severity of symptoms, and sometimes, supplementation with a vitamin, thiamin. The diet must be continued indefinitely with frequent monitoring.

Source

• National Newborn Screening and Genetics Resource Center.

• Retrieved June 19, 2013, from www.marchofdimes.com/peristats.