TY - CHAP M1 - Book, Section TI - Chapter 155. Disorders of Galactose and Fructose Metabolism and Gluconeogenesis A1 - Kishnani, Priya S. A1 - Chen, Yuan-Tsong A2 - Rudolph, Colin D. A2 - Rudolph, Abraham M. A2 - Lister, George E. A2 - First, Lewis R. A2 - Gershon, Anne A. PY - 2011 T2 - Rudolph's Pediatrics, 22e AB - Galactosemia denotes the elevated level of galactose in the blood and is found in three distinct inborn errors of galactose metabolism (Chapter 154, Fig. 154-1) in one of the following enzymes: galactose-1-phosphate uridyl transferase, galactokinase, and uridine diphosphate galactose-4-epimerase. The term galactosemia, although adequate for the deficiencies for any of these three disorders, generally designates the transferase deficiency, which is by far the most prevalent and is called classical galactosemia.1 SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=6726245 ER -