How are children’s lives affected now?

NKH affects around one in every 60,000 babies.¹ Children born with the disease have faults in one of two genes that make it harder for their bodies to break down an amino acid* called glycine. As a result, this molecule builds up to harmful levels in their organs and tissues, especially in the brain, causing serious neurological problems. 

“Newborn babies with the most severe form of NKH may become floppy, extremely lethargic, have seizures and require breathing support,” says Professor Greene. “Sadly, some will lose their lives within the first weeks of life.”

Babies who survive will develop severe learning disabilities, with most never reaching key developmental milestones such as walking, talking or feeding themselves – and experience seizures that are often hard to control. They may also have other symptoms, including feeding difficulties, muscle spasms and visual impairment.

“Sadly, there is currently no cure for NKH – and new treatments are desperately needed,” says Professor Greene. “While some children have milder forms that begin later in childhood, those with the most severe form of the condition often do not live to celebrate their fifth birthday.”

*Amino acids are the building blocks of proteins.

How could this research help?

“We’re aiming to develop cutting-edge therapies that could transform the lives of children with NKH,” says Professor Greene.

Using a laboratory model of NKH, the researchers made an exciting discovery – removing a specific protein completely corrected glycine levels, suggesting that targeting it could offer a powerful new way to treat the condition.

“We now plan to develop new treatments that block or alter the production of this protein in cells,” says Professor Greene.

The team will carry out laboratory experiments to evaluate the safety and effectiveness of these new therapies, including whether they can help lower glycine levels and improve neurological symptoms in relevant disease models. They will also explore the potential of combining this new approach with a gene therapy also under development in their laboratory, following previous support from Action.

References

1. Orphanet. Glycine encephalopathy: https://www.orpha.net/en/disease/detail/407 [website accessed 08 January 2026]

We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP.