RT Book, Section A1 Thomas, Janet A. A1 Van Hove, Johan L. K. A1 Larson, Austin A. A1 Baker II, Peter R. A2 Hay Jr., William W. A2 Levin, Myron J. A2 Abzug, Mark J. A2 Bunik, Maya SR Print(0) ID 1172112040 T1 Inborn Errors of Metabolism T2 Current Diagnosis & Treatment: Pediatrics, 25e YR 2020 FD 2020 PB McGraw-Hill Education PP New York, NY SN 9781260457827 LK accessmedicine.mhmedical.com/content.aspx?aid=1172112040 RD 2024/03/29 AB Disorders in which single-gene defects cause clinically significant blocks in metabolic pathways are called inborn errors of metabolism. Once considered rare, the number of recognized inborn errors has increased dramatically, and they are now recognized to affect 1:1500 children. Many of these disorders can be treated effectively. Even when treatment is not available, correct diagnosis permits parents to make informed decisions about future offspring.