PHHI Hypoglycemia

《英文msh詞典》PHHI Hypoglycemia
[入口詞] PHHI Hypoglycemia
[主題詞] Persistent Hyperinsulinemia Hypoglycemia of Infancy
[英文釋義] 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.