Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyperinsulinemic hypoglycemia 3

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 3 of the disease is caused by GCK mutations.

Systematic

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

References:

1.

Thornton PS et. al. (1998) Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.

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2.

Glaser B et. al. (1998) Familial hyperinsulinism caused by an activating glucokinase mutation.

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3.

Christesen HB et. al. (2002) The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.

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4.

Cuesta-Muñoz AL et. al. (2004) Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

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5.

Kassem S et. al. (2010) Large islets, beta-cell proliferation, and a glucokinase mutation.

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Update: Sept. 26, 2018