Submitted to: Electronic Publication
Publication Type: Other
Publication Acceptance Date: January 10, 2005
Publication Date: February 1, 2005
Citation: Sunehag, A., Haymond, M.W. 2005. Etiology of hypoglycemia in infants and children. UpToDate Online Journal [serial online]. Available: http://uptodateonline.com. Technical Abstract: The body maintains a delicate balance between the rate at which glucose is produced or enters the circulation (appearance rate) and the rate at which it is utilized (disappearance rate). When the rate of appearance of glucose into the plasma exceeds the rate of disappearance, the plasma glucose concentration increases. Conversely, when the rate of disappearance is greater than the rate of appearance, the plasma glucose concentration decreases. In many hypoglycemic conditions, the understanding of glucose kinetics is insufficient to assign a clear cause (eg, increased utilization or decreased production). In other conditions, a combination of compromised production and increased utilization is thought to contribute to the development of hypoglycemia. Hereditary disorders associated with a deficiency of specific enzymes involved with substrate mobilization, interconversion, and utilization are individually rare disorders but frequently associated with hypoglycemia. These enzymatic defects may involve carbohydrate, amino acid, or fat metabolism and are almost always inherited as autosomal recessive traits. Because of the interactions of fat, carbohydrate, and amino acid metabolism in the maintenance of normal fuel homeostasis, abnormalities in the metabolism of a single substrate can have primary and secondary effects on other metabolic pathways. A common expression of these derangements is the development of biochemical or symptomatic hypoglycemia. Unless their hypoglycemia is promptly recognized and treated, these children may develop symptoms and potentially permanent neurologic sequelae.