RESUMEN
The Texas Department of Health's Newborn Screening Program screens for five inherited disorders: phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), congenital hypothyroidism (CH), galactosemia (GAL), and sickle cell disease (SCD). The objective of this study was to determine the prevalence of these disorders and to describe ethnic and gender patterns in their distribution. Cases were identified from blood specimens collected at birth from live births in Texas from 1992 through 1998. During this time, the overall prevalence of these disorders per 10,000 live births was 0.70 for PKU, 0.21 for GAL, 4.18 for CH, 1.03 for CAH, and 3.92 for SCD. Ethnic and gender disparities were observed among PKU, CH, CAH, and SCD prevalence. Results suggest that unidentified mutations and environmental factors may exist that contribute to these patterns. This warrants further investigation to determine possible modifiable risk factors for populations with higher prevalence.