Treatinghomocystinuria

Vitamin B6 (pyridoxine)

In some babies, it's possible to control the levels of homocysteine with high doses of vitamin B6 (pyridoxine). If this works, your child will need to take vitamin B6 supplements for the rest of their life.

Diet

Children diagnosed with HCU that doesn't respond to vitamin B6 are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of methionine your baby receives.

High-protein foods need to be limited, including:

• meat
• fish
• cheese
• eggs
• pulses
• nuts

Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development.

Breastfeeding and baby milk also need to be monitored and measured, as advised by your dietitian. Special formula milk may be used. The diet will be designed to contain all the vitamins, minerals and other amino acids your baby needs.

As your baby moves on to solid foods, your dietitian can explain which low-protein foods are suitable. Some of these may be available on prescription, including low-protein rusks, milk substitutes and low-protein pasta.

People with HCU may need to follow a modified diet for the rest of their life. As your child gets older, they'll eventually need to learn how to control their diet and stay in contact with a dietitian for advice and monitoring.

Regular blood tests will also be needed to monitor the amount of homocysteine in their blood.

Medication

Alongside a low-protein diet, your child may be prescribed a medication called betaine to help clear some of the excess homocysteine.

Medication for HCU needs to be taken regularly, as directed by your doctor.