| 单词 | Infancy Hyperinsulinemia Hypoglycemia |
| 释义 | Infancy Hyperinsulinemia Hypoglycemia《英文msh词典》Infancy Hyperinsulinemia Hypoglycemia [入口词] Infancy Hyperinsulinemia Hypoglycemia [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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