TY - CHAP M1 - Book, Section TI - Disorders of Galactose and Fructose Metabolism and Gluconeogenesis A1 - Kishnani, Priya S. A1 - Chen, Yuan-Tsong A2 - Kline, Mark W. PY - 2018 T2 - Rudolph's Pediatrics, 23e 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/19 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1182929263 ER -