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Selected disorders of carbohydrate metabolism

Selected disorders of carbohydrate metabolism
Carbohydrate intolerance disorders
Galactokinase deficiency
UDP galactose epimerase deficiency
Hereditary fructose intolerance
Disorders of carbohydrate production or utilization
Disorders of glycogenolysis (glycogen storage diseases, GSD)
Liver glycogen synthase deficiency (GSD 0)
Glucose-6-phosphatase deficiency (GSD I; von Gierke disease)
Lysosomal acid maltase deficiency (GSD II; Pompe disease)
Glycogen debrancher deficiency (GSD III; Cori/Forbes disease)
Glycogen branching enzyme deficiency (GSD IV; Andersen disease)
Muscle phosphorylase deficiency (GSD V; McArdle disease)
Liver phosphorylase deficiency (GSD VI; Hers disease)
Muscle phosphofructokinase deficiency (GSD VII; Tarui disease)
Phosphoglycerate kinase and phosphoglycerate mutase deficiency
Phosphorylase b kinase deficiency
Disorders of gluconeogenesis
Fructose 1,6-biphosphatase deficiency
Pyruvate carboxylase deficiency
Phosphoenolpyruvate carboxykinase (PEPCK) deficiency
Pyruvate dehydrogenase deficiency
UDP: uridine diphosphate.
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