HCU is a rare disorder in which a baby or child has a problem when breaking down the building blocks of protein, in particular the amino acid, homocysteine. This then builds up in the blood. In the long term, this can lead to a number of health problems.
What are the effects of having HCU? Without treatment, most children with HCU have learning difficulties and eye problems. They may also develop bones that are abnormally long and thin (osteoporosis), and blood clots or strokes.
These effects can be prevented if the disorder is identified and treated in the first few days of life which is why screening is strongly recommended.
How is HCU treated? Treatment is given to prevent the build-up of homocysteine. In some children with HCU, the level of homocysteine can be controlled by giving Vitamin B6 (Pyridoxine). These children are called pyridoxine responsive. If vitamin B6 does not work, the children are treated with a special low-protein diet and extra supplements and medicines.
The following information leaflets are available for parents and can be downloaded from the UK newborn screening Programme website:
- HCU suspected https://www.gov.uk/government/publications/hcu-suspected-description-in-brief
- HCU confirmed diagnosis https://www.gov.uk/government/publications/hcu-confirmed-diagnosis-description-in-brief
The Inherited Metabolic Disorders National Managed Clinical Network will be able to give information and support to parents following the diagnosis of HCU