Although it is considered to be a rare disease, affecting roughly one in every 50,000 newborn babies, it may be underdiagnosed. This discovery, which has been published in Human Molecular Genetics, could pave the way for new therapies.Ĭongenital hyperinsulinism starts exerting its effects from birth. A team at the University of Geneva (UNIGE), Switzerland, supported by the Swiss National Science Foundation (SNSF) has succeeded in precisely describing the effects of a frequent genetic mutation in cases of congenital hyperinsulinism. The disorder can therefore lead to serious brain damage and even death in the worst cases. The brain, which devours vast quantities of energy, is perpetually undernourished. Since the function of insulin is to metabolise sugars, excess production of insulin leads to chronic hypoglycaemia.

The opposite is the case in congenital hyperinsulinism: patients produce the hormone too frequently and in excessive quantities, even if they haven’t eaten any carbohydrates. A mutation of the GDH protein can lead to insulin overproduction.ĭiabetes is characterised by a deficiency of insulin. Hyperinsulinism is linked to the GDH protein.

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