Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyperinsulinemic hypoglycemia 2

Congenital hyperinsulinism, nesidioblastosis is the most common cause of persistent hypoglycemia in infancy which is caused by increased insulin secretion despite of low blood glycose levels. The most important complication is cerebral damage as a result of prolonged hypoglycemia. Type 2 of the disease is caused by KCNJ11 mutations.

Systematic

Hyperinsulinemic hypoglycemia
HNF1A
HNF4A
Hyperinsulinemic hypoglycemia 1
Hyperinsulinemic hypoglycemia 2
KCNJ11
Hyperinsulinemic hypoglycemia 3
Hyperinsulinemic hypoglycemia 4
Hyperinsulinemic hypoglycemia 5
Hyperinsulinemic hypoglycemia 6
Hyperinsulinemic hypoglycemia 7
Polycystic kidney disease with hyperinsulinemic hypoglycemia

References:

1.

Tornovsky S et al. (2004) Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

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2.

Henwood MJ et al. (2005) Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

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3.

Pinney SE et al. (2008) Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

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4.

Marthinet E et al. (2005) Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.

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5.

Taneja TK et al. (2009) Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism.

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6.

Thomas P et al. (1996) Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.

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7.

Nestorowicz A et al. (1997) A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.

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8.

Fournet JC et al. (2001) Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.

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9.

OMIM.ORG article

Omim 601820 [^]
Update: April 29, 2019