A Focus on HK1
Care-for-Rare works in partnership with the parents of children with an HK1 mutation and with individuals affected by an HK1 mutation.
The collaboration, formalized in February of 2022, is designed to create awareness of the mutation and to support fundraising efforts that advance scientific research into therapeutic treatments and hopefully a cure for the most debilitating impacts.
There are only 15 individuals worldwide with the mutation that we know of. We believe there are more. The small number of known individuals qualifies the HK1 mutation and related disease as ultra-rare and therefore “too rare” to raise the interest of the scientific community.
Identifying affected individuals is critically important for two main reasons:
- For scientists: Understanding the medical manifestations of the HK1 mutation requires the evaluation of a large number of individuals, ideally 100 or more.
- For parents and individuals: Sharing information about effective treatments and medications and those showing promise can prompt earlier interventions for other patients.
The HK1 gene encodes the Hexokinase 1 enzyme, which is involved in glucose metabolism. A mutation of this enzyme leads to a decrease of energy in the brain. Mutations of the HK1 gene can be identified only through genetic testing.
The symptoms most common in our group of 15 individuals include the following:
- Structural changes in the brain during gestation
- Neurological disorders such as epilepsy
- Intellectual disability
- Optic atrophy, which leads to blurred vision and potentially blindness
- Hypotonia (muscle weakness)
Join Our Intrepid Community
We are earnestly interested in connecting with anyone affected by the HK1 mutation. If you or a loved one has been diagnosed with an HK1 mutation, please subscribe to our newsletter. You can also join our Facebook group.
Most importantly, please DONATE if you are able. We are grateful for every donation, no matter how small.