Researchers at the Sahlgrenska Academy have discovered a previously unknown congenital disease that is caused by a genetic defect resulting in muscle cells not being able to store energy from sugar. In the worst case, the disease can lead to the heart stopping.
The researchers identified three sisters who had previously had an undetermined disease. Their parents must have both been carriers as that is what is needed for this congenital heart defect to transpire. The eldest of the siblings collapsed suddenly while on a playground and died. She had previously been treated for epilepsy with diminished energy and strength.
It wasn’t …read more