Contents
― Your baby's screening result
― What is HCU?
― Treatment
― What happens next?
― More information and support
― Using your information
The result of your baby’s ‘heel prick’ screening blood test suggests they might have homocystinuria (HCU). Your baby now needs further tests to check whether he or she has HCU or not.
This leaflet gives some information about HCU and explains what happens next.
Homocystinuria (HCU), pronounced ho-mo-sis-tin-ur-ee-a, is a rare but treatable inherited disorder that prevents the normal breakdown of protein.
Babies with HCU inherit two faulty copies of the gene for HCU, one from each parent.
When we eat, our body breaks down protein in food into smaller parts called amino acids. Special chemicals found naturally in our body, called enzymes, then make changes to the amino acids so our body can use them.
Babies with HCU do not have one of the enzymes that help break down one of the amino acids. This causes a harmful substance called homocysteine to build up in their blood and urine.
Babies with HCU benefit significantly from early treatment and can live healthy and active lives.
Without early diagnosis and treatment, babies with HCU can develop long-term health problems, including learning difficulties.
The level of homocysteine may be controlled by giving vitamin B6 (pyridoxine). If this does not work, HCU can be treated with a special low- protein diet and dietary supplements. Your baby may also be given medication.
These treatments prevent a build-up of homocysteine in the blood. If your child has HCU, a specialist metabolic team will see them regularly.
You will be given an appointment to see a specialist metabolic team who will:
If HCU is confirmed, the specialist metabolic team will give your baby a trial
of pyridoxine for a week to see if this reduces homocysteine to a safe level.
If the level remains high, your specialist metabolic team will:
If you are concerned about poor feeding or that your baby is unwell, contact
your specialist metabolic team.
For us to contact you as part of the programme, we will need to handle some of your and your baby’s personal information. If you need more information about this, you can:
We also keep personal details to make sure that the standard of our service is as high as possible. This includes checking your baby’s records if your baby is found to have a condition after having a screening test which showed a ‘not suspected’ result.
We only ever publish information as statistics and we never publish personal details. We pass on
your personal information to health professionals or organisations that need it, including your GP, health visitor and consultant paediatrician. These professionals must protect the personal information in the same way as we do.
All our paper and computer records are stored and processed securely, and the public cannot access them.