Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hypoinsulinemic hypoglycemia

Hypoinsulinemic hypoglycemia with hemihypertrophy is caused by a heterozygous gain-of-function mutation. Dominant inheritance is not observable as all patients die young. Conclusively all cases reported so far are spontaneous, de novo mutations. An imprtant clinical feature is macrosomia at birth. Soon a hypoclycemia becomes apparent. Other pathological laboratory findings include: hypoketotic, hypofattyacidemic, hypoinsulinemia.

Systematic

Disturbances of glucose metabolism
Diabetes mellitus
Disturbed regulators of lipid and carbohydrate metabolism
Fasting plasma glucose trait loci
Hyperinsulinemic hypoglycemia
Hypoinsulinemic hypoglycemia
AKT2

References:

1.

Hussain K et al. (2011) An activating mutation of AKT2 and human hypoglycemia.

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2.

HANSSON G et al. (1963) Familial neonatal hypoglycemia. A syndrome resembling foetopathia diabetica.

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3.

Hussain K et al. (2004) Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome.

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Update: Sept. 26, 2018