Megamud dat 1.11p4/19/2023 ![]() HHF5 ( 609968) is caused by mutation in the insulin receptor gene (INSR 147670) on chromosome 19p13. HHF4 ( 609975) is caused by mutation in the HADH gene ( 601609) on chromosome 4q25. HHF3 ( 602485) is caused by mutation in the glucokinase gene (GCK 138079) on chromosome 7p13. HHF2 ( 601820) is caused by mutation in the KCNJ11 gene ( 600937) on chromosome 11p15. Genetic Heterogeneity of Hyperinsulinemic Hypoglycemia ![]() Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur ( Thornton et al., 1998). Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels.
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