Supporting families with children who have Nonketotic Hyperglycinemia

Raising awareness, connecting families, bringing hope and building futures.

What is Nonketotic Hyperglycinemia (NKH)?

Nonketotic Hyperglycinemia (NKH) is a metabolic disorder in children which prevents their little bodies from processing glycine.

NKH usually affects infants and children, appearing shortly after birth. It is a genetic disorder and is inherited from both parents.

There is a wide range of severities with NKH, as the individual mutations affect the child’s quality of life. Some children have very severe NKH. As such they have complex medical needs and can have severe¬†developmentally delay. They may require support sitting, eating and breathing. Some children are more attenuated (mild). They might be able to walk for short distances and have behavioural difficulties. One or two very attenuated children may even graduate from a mainstream high school.

In the same manner there are a range of severities, there is also a range of life expectancies. Unfortunately NKH is considered terminal. 80% of children diagnosed with NKH won’t see their first birthday. Of those that do, the average age at death is between 3-5 years.

But have hope, there is research underway to find an effective treatment. While life with NKH is hard, there is still a lot of love to be had. Have hope.