Your baby’s screening result – Homocystinuria (HCU) is suspected
Your baby’s newborn bloodspot test (heel prick test) suggests they may have homocystinuria (HCU), pronounced ho-mo-sistin-ur-ee-a.
Your baby will need more tests to confirm whether they have HCU.
What is HCU?
HCU is a rare but treatable inherited metabolic disorder.
Babies with HCU do not have enough of an enzyme needed to break down part of the protein found in food. Without this enzyme, certain substances can build up in the body. If HCU is left untreated, it can lead to serious illness and long term health problems.
With early diagnosis and treatment, babies with HCU can grow and develop normally, and people with HCU can live healthy, active lives.
What happens next?
A specialist metabolic team will arrange more tests to confirm whether your baby has HCU.
It may take a few days for you to receive these results.
If your baby becomes unwell or you are worried they aren’t feeding properly, please get medical help.
If tests confirm that your baby does has HCU, you will receive further support and care from the specialist metabolic team. They will explain the condition in more detail, answer your questions and start treatment quickly.
How you might be feeling:
It’s completely natural to feel worried or unsure when your baby needs further testing. You can find more information and support from the following groups:
Metabolic Support UK
- Website: www.metabolicsupportuk.org
- Phone: 0845 241 2173 or 0800 652 3181
- Email: [email protected]
The British Inherited Metabolic Diseases Group (BIMDG) website has a useful booklet about HCU