such as "Introduction", "Conclusion"..etc
A number of congenital disorders characterized by low blood sugar levels
(hypoglycemia) as a result of excessive secretion of the hormone
insulin are collectively known as congenital hyperinsulinism.
These disorders are caused by genetic mutations that result in mutant
KATP channel proteins in the insulin-secreting cells of the pancreas.
To develop the most common and most severe form of congenital
hyperinsulinism a baby must inherit a mutated gene from each of its
parents (these mutations are said to be recessive as if only one mutated
gene is inherited the baby does not suffer from the disease).
Recent reports have suggested that less severe forms of the disease
can arise in children through the inheritance of a mutated gene from
only one parent (these mutations are said to be dominant as the mutated
gene causes disease despite the presence of a normal version of the
To better understand the differences between the recessive and
dominant mutations that cause congenital hyperinsulinism, Charles
Stanley and colleagues, at the Children's Hospital of Philadelphia,
characterized 33 patients with dominantly inherited KATP mutations.
Consistent with the recent reports on a small number of children, the
authors found that patients with disease caused by dominant mutations
exhibited a milder hypoglycemia than is normal for individuals with
congenital hyperinsulinism caused by recessive mutations. Indeed, there
were a large number of asymptomatic individuals and disease in most
symptomatic individuals was well controlled with medication.
Mechanistic insight into the difference in the severity of disease
caused by dominant and recessive mutations was provided by the
observation that dominant mutations generated a form of KATP that can
reach the cell surface but has impaired activity, whereas recessive
mutations are known to generate a form of KATP that cannot reach the
The authors stress that because children with dominant KATP mutations
are likely to exhibit less severe symptoms, the disease may be missed
and doctors should carefully evaluate children with family histories of
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