PPT-Galactosemia

What is Galactosemia Galactosemia too much galactose in the blood When a person consumes dairy which has lactose in it the body will break it down into galactose and glucose . Maltose, lactose, . trehalose. , sucrose. Fructose, mannose, . galactose. Feeder pathways for . glycolysis. 2. Catabolism of cellular glycogen. Glycogen phosphorylase catalyzes an attack by Pi on the (. zamil. INBORN ERRORS OF METABOLISM. 23/12/2020. Outlines : . Definition: . genetic disorders that cause disruption of a metabolic pathway. Disease. accumulation of a toxic . . substrate proximal to the metabolic block . Q. What is mild galactosemia? A. Mild galactosemia affects the way the body processes the sugar galactose, a component of milk and dairy products. Children with mild galactosemia may have some dif A. In a child with galactosemia, galactose cannot be converted to glucose because the GALT enzyme does not work properly. This results in large amounts of galactose and other by-products that are to metabolism, the Leloir pathway. Three key enzymesgalactose-1-phosphate uridyl transferase (GALT),long-term complications. GALT deficiency causes deficiency causesclinically during the neonatal period, 20V 53 15, 2016DITORIALHowever, most follow-up studies in patients withmotor and speech problems. Additionally, almost allwith premature ovarian failure causing hyper-gonadotropic hypogonadism [11]. trehalose. , sucrose. Fructose, mannose, . galactose. Feeder pathways for . glycolysis. 2. Catabolism of cellular glycogen. Glycogen phosphorylase catalyzes an attack by Pi on the (. a. 1. →. 4) glycosidic linkage that joins the last two glucose residues at a nonreducing end, generating glucose 1-phosphate and a polymer one glucose unit shorter..