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.

• LCHAD = Long-chain 3-OH acyl-CoA dehydrogenase deficiency

• Symptoms can begin soon after birth, resulting in heart, lung or liver failure and death. In other cases, symptoms such as low muscle tone, developmental delay, heart, lung or liver failure may develop later in infancy or childhood, most likely following an illness. Early diagnosis and treatment effectively prevent life-threatening events, though some children may still develop symptoms. Treatment includes a high-carbohydrate/low-fat diet, nutritional supplements, and avoidance of fasting. Women who are pregnant with fetuses with LCHAD are at increased risk of developing acute fatty liver of pregnancy and other pregnancy complications.

Source

• National Newborn Screening and Genetics Resource Center.

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