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London, Sep 18 (IANS) Researchers have discovered how a genetic mutation may lead to excess production of insulin, a condition known as congenital hyperinsulinism, even if the patients have not eaten any carbohydrates.
Since the function of insulin is to metabolise sugars, excess production of insulin leads to chronic hypoglycaemia. The brain, which devours vast quantities of energy, is perpetually undernourished.
The disorder can therefore lead to serious brain damage and even death in the worst cases.
In a study published in the journal Human Molecular Genetics, the researchers described the effects of a genetic mutation in cases of congenital hyperinsulinism.
Congenital hyperinsulinism starts exerting its effects from birth. Although it is considered to be a rare disease, affecting roughly one in every 50,000 newborn babies, it may be underdiagnosed.
"Unless you are looking for it, hypoglycaemia can easily go unnoticed in an infant," said lead author of the study Pierre Maechler, a researcher at the University of Geneva (UNIGE), Switzerland.
"Without intervention it can rapidly take a dramatic course," Maechler said.