Screening for metabolic disorders. How are we doing?
Routine screening for phenylketonuria and congenital hypothyroidism has become an integral part of pediatric practice in the United States. Screening for several other metabolic disorders is now entering the second or third decade of use. New information is available for the pediatrician for both groups of disorders that will be of help in caring for children in the years to come.
Irons
M
M
Department of Pediatrics, Tufts University School of Medicine, Boston, Massachusetts.
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis; D000581:Amidohydrolases / Q000172:deficiency; D000755:Anemia, Sickle Cell / Q000175:diagnosis; D043523:Biotinidase; D003409:Congenital Hypothyroidism; D003550:Cystic Fibrosis / Q000175:diagnosis; D005693:Galactosemias / Q000175:diagnosis; D006712:Homocystinuria / Q000175:diagnosis; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis; D007231:Infant, Newborn; D008375:Maple Syrup Urine Disease / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D010661:Phenylketonurias / Q000175:diagnosis
D000581:Amidohydrolases; D043523:Biotinidase