Canadian Medical Guide > Diseases > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Persistent Hyperinsulinemia Hypoglycemia of Infancy Terms and Definitions




Persistent Hyperinsulinemia Hypoglycemia of Infancy

Medical Definition: A form of nontransient HYPOGLYCEMIA, unique to infancy, due to autosomal recessive mutations of the sulfonylurea receptor gene on CHROMOSOME 11. Defects in the sulfonylurea receptors (ATP-BINDING CASSETTE TRANSPORTERS) on the PANCREATIC BETA CELLS prevent negative feedback of GLUCOSE-regulated INSULIN release thus resulting in HYPERINSULINEMIA. Clinical phenotype includes SEIZURES; COMA; and often large BIRTH WEIGHT for GESTATIONAL AGE.
Previously Indexed: Chromosomes, Human, Pair 11 (1995-2003),Hyperinsulinism (1977-2003),Hypoglycemia (1977-2003)

Persistent Hyperinsulinemia Hypoglycemia of Infancy Medical Definitions and Terms

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