Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyperinsulinemic hypoglycemia 6

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 6 of the disease is caused by GLUD1 mutations.

Systematic

Hyperinsulinemic hypoglycemia
HNF1A
HNF4A
Hyperinsulinemic hypoglycemia 1
Hyperinsulinemic hypoglycemia 2
Hyperinsulinemic hypoglycemia 3
Hyperinsulinemic hypoglycemia 4
Hyperinsulinemic hypoglycemia 5
Hyperinsulinemic hypoglycemia 6
GLUD1
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.

Miki Y et al. (2000) Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.

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3.

Santer R et al. (2001) Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.

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4.

Stanley CA et al. (1998) Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.

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5.

Glaser B et al. (1998) Clinical and molecular heterogeneity of familial hyperinsulinism.

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6.

Hsu BY et al. (2001) Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.

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7.

MacMullen C et al. (2001) Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.

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8.

Kelly A et al. (2001) Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome.

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9.

De Lonlay P et al. (2001) Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients.

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10.

Ihara K et al. (2005) A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia.

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11.

Zammarchi E et al. (1996) Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia.

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12.

Weinzimer SA et al. (1997) A syndrome of congenital hyperinsulinism and hyperammonemia.

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13.

OMIM.ORG article

Omim 606762 [^]
Update: May 9, 2019