Persistent Hyperinsulinemia Hypoglycemia of Infancy | Legal notice |
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Other terms
Congenital Hyperinsulinism,Hyperinsulinism, Congenital,Hyperinsulinemia Hypoglycemia of Infancy,Infancy Hyperinsulinemia Hypoglycemia,PHHI Hypoglycemia,Hypoglycemia, PHHI
Description
Persistent Hyperinsulinemia Hypoglycemia of Infancy: 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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