State screening for metabolic disorders in newborns.
Most states have mandatory screening programs for congenital and inherited disorders of metabolism. Physicians may be unaware of their state's requirements, and compiled lists of testing requirements are generally unavailable or incomplete. All states test for congenital hypothyroidism and phenylketonuria. Some states require that newborns be tested for up to six other specific congenital and inherited disorders of metabolism. Some states base their decision to test on demographic data, but there is no uniformity in the tests.
Stevens
M B
MB
San Jose Medical Center, California.
Rigilano
J C
JC
Wilson
C C
CC
D000312:Adrenal Hyperplasia, Congenital / Q000453:epidemiology; D000581:Amidohydrolases / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000453:epidemiology; D000755:Anemia, Sickle Cell / Q000453:epidemiology; D043523:Biotinidase; D003409:Congenital Hypothyroidism; D003550:Cystic Fibrosis / Q000453:epidemiology; D005693:Galactosemias / Q000453:epidemiology; D006712:Homocystinuria / Q000453:epidemiology; D006801:Humans; D007037:Hypothyroidism / Q000453:epidemiology; D007231:Infant, Newborn; D008375:Maple Syrup Urine Disease / Q000453:epidemiology; D008403:Mass Screening; D008661:Metabolism, Inborn Errors / Q000453:epidemiology*; D010661:Phenylketonurias / Q000453:epidemiology; D014443:Tyrosine / Q000097:blood; D014481:United States
D014443:Tyrosine; D000581:Amidohydrolases; D043523:Biotinidase