单词 | Hypoglycemia,PHHI |
释义 | Hypoglycemia,PHHI《英文msh词典》Hypoglycemia,PHHI [入口词] Hypoglycemia,PHHI [主题词] Persistent Hyperinsulinemia Hypoglycemia of Infancy [英文释义] 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. |
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