Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyperinsulinemic hypoglycemia

Congenital hyperinsulinism is a hereditary disorder characterized by hight insulin levels that result in hypogycemia, low levels in blood glucose.

Systematic

Disturbances of glucose metabolism
Diabetes mellitus
Disturbed regulators of lipid and carbohydrate metabolism
Fasting plasma glucose trait loci
Hyperinsulinemic hypoglycemia
HNF1A
HNF4A
Hyperinsulinemic hypoglycemia 1
ABCC8
Hyperinsulinemic hypoglycemia 2
KCNJ11
Hyperinsulinemic hypoglycemia 3
GCK
Hyperinsulinemic hypoglycemia 4
HADH
Hyperinsulinemic hypoglycemia 5
INSR
Hyperinsulinemic hypoglycemia 6
GLUD1
Hyperinsulinemic hypoglycemia 7
SLC16A1
Polycystic kidney disease with hyperinsulinemic hypoglycemia
PMM2
Hypoinsulinemic hypoglycemia

References:

1.

Kapoor RR et al. (2009) Advances in the diagnosis and management of hyperinsulinemic hypoglycemia.

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2.

Stanescu DE et al. (2012) Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes: HNF1A and HNF4A.

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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.

James C et al. (2009) The genetic basis of congenital hyperinsulinism.

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5.

Huopio H et al. (2002) K(ATP) channels and insulin secretion disorders.

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6.

Meissner T et al. (2003) Long-term follow-up of 114 patients with congenital hyperinsulinism.

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7.

Sandal T et al. (2009) The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.

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8.

Orphanet article

Orphanet ID 165988 [^]
9.

Wikipedia article

Wikipedia EN (Hyperinsulinemic_hypoglycemia) [^]
Update: May 9, 2019