Galactosemia, the inability to metabolize galactose, is the most common monogenic disorder of carbohydrate metabolism, affecting 1 in every 55,000 newborns.

Consequently, enzyme deficiencies that leads to impaired synthesis or degradation of glycogen are also considered disorders of carbohydrates metabolism.

The test is usually used to test for diabetes, insulin resistance, and sometimes reactive hypoglycemia and acromegaly, or rarer disorders of carbohydrate metabolism.

From 1959 he was an assistant in the Second Department of Internal Medicine at this university, where he conducted clinical research on disorders of carbohydrate metabolism.

Traditionally the inherited metabolic diseases were categorized as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases.

Phosphoenolpyruvate Carboxykinase Deficiency PEPCK Cytosolic PEPCK Mitochondrial PEPCK deficiency is an extremely rare disorder of carbohydrate metabolism inherited as an autosomal recessive trait.