News ID: 260088
Published: 1043 GMT October 12, 2019

SIDS down to gene deficiency which prevents milk being digested in some babies

SIDS down to gene deficiency which prevents milk being digested in some babies
PA

Sudden infant death syndrome (SIDS) may be caused by a defective gene which prevents babies digesting milk, a breakthrough study found.

Scientists said some of the roughly 200 UK babies who die unexpectedly from the condition each year could have suffered fatal cardiac arrests because they cannot break down fat, telegraph.co.uk wrote.

SIDS, also known as ‘cot death’, is particularly devastating for parents because often experts are unable to determine a cause of death.

Published in Nature Communications, the laboratory study is the first time a plausible causal link between a genetic anomaly and some instances of the syndrome has been drawn.

It opens the door for scientists to one day test babies in the womb for the deficiency and possibly even treat it.

The researchers said a mutation of the HADHA gene leaves babies unable to metabolize lipids, molecules that include fats, cholesterol and fatty acids, meaning they can die suddenly at just a few weeks old.

According to the NHS, other causes of SIDS may be low birthweight, breathing obstruction, or environmental stresses such as tobacco smoke, although health leaders recognize that the evidence is far from clear.

Dr. Jason Miklas, who led the study at Stanford University, said, “If a child has a mutation, depending on the mutation the first few months of life can be very scary as the child may die suddenly.

"An autopsy wouldn't necessarily pick up why the child passed but we think it might be due to the infant's heart stopping to beat."

The US team used stem cells in a laboratory to see how they behaved with various genetic abnormalities.

They found the breakdown occurring when enzymes fail to complete a process known as fatty acid oxidation.

It is currently possible to screen for the genetic markers of the deficiency, but effective treatments are still a ways off.

 

   
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