Abstract

ABSTRACTIn September 1978 phenylketonuria (PKU) screening in the state of Georgia was expanded to include testing for five additional metabolic disorders. Our goal was to begin therapy within the first three weeks of an infants life. During the first 22 months, 167,458 specimens were received; 151,250 from infants ≤ 1 week of age. During this period 157,893 live births were reported. More than 90% of 2,299 infants with abnormal screening results were retested. The number of cases and incidence of each disease detected were hyperphenylalaninemia, five (1/31,579); maple syrup urine disease, 0 (0/151,250); homocystinuria, one (1/151,250); galactosemia, two (1/63,352); transient tyrosinemia (≥12 mg/dl), 50 (1/3,158); primary congenital hypothyroidism, 17 (1/7,453); and thyroid binding globulin deficiency, ten (1/12,670). For eight children with either hyperphenylalaninemia, homocystinuria, or galactosemia, the average time for retrieval between the initial abnormal screening result and the first follow-up test was 6.2 days (range three to ten days). Therapy was started by 9.9 days of age (range seven to 17). For the 17 children with congenital hypothyroidism, the retrieval time was 11.6 days (range three to 27) and treatment began by 21.3 days of age (range ten to 69 days).