Galactose epimerase deficiency

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Galactose epimerase deficiency Classification and external resources
Uridine diphosphate glucose
OMIM	230350
DiseasesDB	29842

Galactose epimerase deficiency, also known as GALE deficiency, Galactosemia III and UDP-galactose-4-epimerase deficiency,^[1] is a rare form of galactosemia associated with a deficiency of the enzyme galactose epimerase.

[edit] Inheritance

Galactose epimerase deficiency is an autosomal recessive disorder,^[1] which means the defective gene is located on an autosome, and two copies of the defective gene - one from each parent - are required to inherit the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

[edit] External links

• http://dwb.unl.edu/Teacher/NSF/C11/C11Links/web.indstate.edu/thcme/mwking/non-glucose-metabolism.html

[edit] References

v • d • e Inborn error of carbohydrate metabolism (including glycogen storage diseases) (E73-74, 271) Disaccharide catabolism Lactose intolerance - Sucrose intolerance Monosaccharide catabolism fructose: Essential fructosuria - Fructose intolerance galactose/galactosemia : Galactokinase deficiency - Galactose-1-phosphate uridylyltransferase galactosemia - Galactose epimerase deficiency Monosaccharide transport Glucose-galactose malabsorption - Inborn errors of renal tubular transport (Renal glycosuria) Glycolysis GSD type VII, Tarui's, phosphofructokinase - Triosephosphate isomerase deficiency - Pyruvate kinase deficiency Pyruvate catabolism PDHA - Fumarase deficiency Gluconeogenesis PCD - Fructose bisphosphatase deficiency - GSD type I, von Gierke, glucose 6-phosphatase Glycogenesis GSD type 0, glycogen synthase - GSD type IV, Andersen's, branching Glycogenolysis GSD type II, Pompe's, glucosidase - GSD type III, Cori's, debranching - GSD type V, McArdle, glycogen phosphorylase/GSD type VI, Hers', glycogen phosphorylase - GSD type I, von Gierke, glucose 6-phosphatas Pentose phosphate pathway Glucose-6-phosphate dehydrogenase deficiency - Pentosuria Other Hyperoxaluria see also glycolysis enzymes, pentose phosphate pathway enzymes, fructose and galactose metabolism enzymes