A metabolic disease is a disorder caused by a problem with the accumulation of chemicals produced naturally in the body. These diseases are usually very serious, some are even life threatening. Others may slow down physical development or cause mental retardation. Unfortunately, most infants with these types of disorders show no obvious signs of disease and appear normal at birth. By the time the condition becomes apparent, the damage may be permanent.
Proper screening at birth can identify these problems and early treatment can result in normal growth and development and/or reduce morbidity and mortality. While these disorders are relatively uncommon, the cost of not diagnosing one of these conditions, both in human suffering and financial impact, is immense.
South Dakota statute (SDCL 34-24-17 through 34-24-25) and Administrative Rule (ARSD 44:19) requires all newborns to be screened for certain metabolic conditions and gives the Department of Health authority to require additional screens as testing technology advances.
