TY - CHAP M1 - Book, Section TI - Galactosemia A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Galactosemia is an autosomal recessive metabolic disorder that occurs due to galactose-1-phosphate uridyl transferase enzyme deficiency that leads to hepatic, ophthalmic, neural, and renal derangements. Inborn error of metabolism with the inability to metabolize galactose appropriately. This results in toxic effects on brain, liver, kidney, and eyes. Early diagnosis and galactose-free diet are the keys to the limitation of the symptoms of the disease. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessanesthesiology.mhmedical.com/content.aspx?aid=1164070447 ER -