RT Book, Section A1 Kishnani, Priya S. A1 Chen, Yuan-Tsong A2 Kline, Mark W. SR Print(0) ID 1182929263 T1 Disorders of Galactose and Fructose Metabolism and Gluconeogenesis T2 Rudolph's Pediatrics, 23e YR 2018 FD 2018 PB McGraw-Hill Education PP New York, NY SN 9781259588594 LK accesspediatrics.mhmedical.com/content.aspx?aid=1182929263 RD 2024/03/19 AB Galactosemia denotes the elevated level of galactose in the blood and, among other reasons, is found in 3 distinct inborn errors of galactose metabolism involving 1 of the following enzymes that comprise the Leloir pathway: galactose-1-phosphate uridyl transferase (GALT), galactokinase (GALK), and uridine diphosphate galactose-4-epimerase (GALE). The term galactosemia, although adequate for the deficiencies of any of these three disorders, generally designates the transferase deficiency that is by far the most prevalent form, and when completely deficient the disorder is called classical galactosemia.