Carbohydrate metabolism disorder in children

Carbohydrate metabolism disorders are a group of common hereditary metabolic disorders. Carbohydrates are one of the main sources of metabolic energy in the cell, among them monosaccharides - galactose, glucose, fructose and the polysaccharide - glycogen occupy a special place. The key substrate of energy metabolism is glucose. As a result of glycolysis (conversion of glucose and glycogen into pyruvate) and oxidative phosphorylation in mitochondria, ATP is formed. A constant concentration of glucose is maintained due to intake from food, de novo synthesis in the process of gluconeogenesis and glycogenolysis (splitting of glycogen). Dietary sources of glucose are polysaccharides and disaccharides (lactose, maltose, sucrose). Glucose can be synthesized from amino acids, mainly from alanine (gluconeogenesis), but this process takes a long time. Liver glycogen is a reserve form of glucose, and when it is broken down, blood glucose levels quickly increase. Muscle glycogen is necessary to maintain muscle contraction during intense physical activity.

Galactose is formed from lactose (a disaccharide present in dairy products); it is the most important source of energy in young children. The main food sources of fructose are sucrose and fructose (fruits, vegetables, honey).

Disorders of carbohydrate metabolism are divided into groups depending on the affected metabolic pathway: disorders of glycogen metabolism, fructose metabolism, and galactose metabolism. Defects in the transport of glucose and other carbohydrates are singled out as a separate group.

ICD-10 CODE

• E74.0 Glycogen storage diseases.
• E74.1 Disorders of fructose metabolism.
• E74.2 Disorders of galactose metabolism.
• E74.3 Other disorders of intestinal carbohydrate absorption.
• E74.4 Disorders of pyruvate metabolism and gluconeogenesis.
• E74.8 Other specified disorders of carbohydrate metabolism.
• E74.9 Disorder of carbohydrate metabolism, unspecified.

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