On January 4, 2005, the Georgia Newborn Screening Program began testing newborns for MCADD disease (Medium Chain Acyl-CoA Dehydrogenase Deficiency). This is a fatty acid genetic/metabolic disorder that causes severe illness and death. Like many other metabolic diseases, it can be treated by changes in diet. (In this case, people must not fast or go long periods without eating). The disease has no symptoms until a period of fasting or decreased eating due to illness occurs. About 20% of affected people die from the first episode. It is also suspected to cause some cases of SIDS. MCADD is more common than previously thought and may be almost as common as PKU, the first metabolic disease for which there was a screening test. The March of Dimes helped Georgia obtain the device (a tandem mass spectrometer) to do the additional test. They have been working since 2001 to expand testing in Georgia.
Georgia now screens for nine metabolic and endocrine disorders (Phenylketonuria, Congenital Hypothyroidism, Maple Syrup Urine Disease, Galactosemia, Tyrosinemia, Homocystinuria, Congenital Adrenal Hyperplasia, Biotinidase Deficiency, Medium-Chain Acyl-CoA Dehydrogenase Deficiency) and sickle cell disease.
Experts recommend testing for 25 different metabolic and endocrine disorders; most of the ones Georgia does not test for need a tandem mass spectrometer to do the test. Hopefully, Georgia will further expand testing of our newborns in the near future.