Homocystinuria (HCU) is a rare genetic disorder present from birth. In HCU, the body is unable to break down an amino acid called methionine. This causes a build up of methionine and another amino acid called homocysteine in the eyes, brain, bones and blood vessels and can cause problems when untreated.

There are two different forms of HCU.

One form can be treated with Vitamin B6 supplements and this type is called ‘B6 responsive HCU’.

The other form of HCU cannot be treated with B6 supplements alone and this type is called ‘non-B6 responsive HCU’. At present, the treatment for ‘non-B6 responsive HCU’ is a protein restricted diet for life and taking regular dietary supplements which contain amino acids, vitamins and minerals. Supplementation of B6, B12, Folate, L-Cystine and Betaine may be recommended. The aim is to keep blood methionine and homocysteine levels within a specific target range.

Support

hcusupport.com

For patient stories click here

For exchange lists, manufactured foods list, low protein shopping guides and information for school visit our Low Protein Corner

For a variety of low protein recipes click here

If you would like to use a reward chart to help your child with their eating or taking their synthetic protein then we have a selection here

Printable Resources

HCU Dietary Handbook

Weaning Your Child on a HCU Diet

HCU Pharmacy Letter

Reading Food Labels for Protein

Low Protein Foods Guide

Fridge Pin Up

Storybook

Harry and Heidi have HCU Storybook-a colourful and informative storybook about Harry and Heidi who have HCU has been developed by Jenny McNulty, Dietitian and Jill Moore, Play Specialist. This book focuses on the importance of the synthetic protein. If you would like a printed copy please contact us directly or ask for a copy at your next out-patient appointment.

Harry & Heidi have HCU

Storybook