Version October 2024
| Carbohydrate intolerance disorders |
| Galactosemia |
| 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 |
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