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California Polytechnic State University at San Luis Obispo
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Journal of molecular endocrinology, Jan 2, 2015
Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion ... more Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion from pancreatic β-cells is unregulated and inappropriate for the level of blood glucose. The inappropriate insulin secretion drives glucose into the insulin sensitive tissues, such as the muscle, liver and adipose tissue leading to severe hyperinsulinaemic hypoglycaemia (HH). At a molecular level, genetic abnormalities in 9 different genes (ABCC8, KCNJ11, GLUD1, GCK, HNF4A, HNF1A, SLC16A1, UCP2, HADH) have been identified which cause CHI. Autosomal recessive and dominant mutations in ABCC8/KCNJ11 are the commonest cause of medically-unresponsive CHI. Mutations in GLUD1 and HADH lead to leucine-induced HH and these two genes encode for the key enzymes (glutamate dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase) which play a key role in amino acid and fatty acid regulation of insulin secretion, respectively. Genetic abnormalities in HNF4A and HNF1A lead to a dual phenotype of ...
Journal of molecular endocrinology, Jan 2, 2015
Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion ... more Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion from pancreatic β-cells is unregulated and inappropriate for the level of blood glucose. The inappropriate insulin secretion drives glucose into the insulin sensitive tissues, such as the muscle, liver and adipose tissue leading to severe hyperinsulinaemic hypoglycaemia (HH). At a molecular level, genetic abnormalities in 9 different genes (ABCC8, KCNJ11, GLUD1, GCK, HNF4A, HNF1A, SLC16A1, UCP2, HADH) have been identified which cause CHI. Autosomal recessive and dominant mutations in ABCC8/KCNJ11 are the commonest cause of medically-unresponsive CHI. Mutations in GLUD1 and HADH lead to leucine-induced HH and these two genes encode for the key enzymes (glutamate dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase) which play a key role in amino acid and fatty acid regulation of insulin secretion, respectively. Genetic abnormalities in HNF4A and HNF1A lead to a dual phenotype of ...