1400-1510 Dietary Practices of Inherited Metabolic Disorders in the UK
Anita MacDonald, Consultant Dietitian in Inherited Metabolic Disorders, Birmingham Childrens Hospital, Birmingham, UK
- Participants will have gained insight in the UK dietary management of amino acid disorders.
- Participants will gain awareness to the UK approach to the type and dose of protein substitute used.
- Participants will understand the UK approach to monitoring and follow up of IMD patients with dietary disorders.
- Participants will gain awareness about UK approaches to infant feeding of infants with amino acid disorders.
Local dietary practices for IMD have been developed by a combination of research, systematic audit, and professional guidelines and consensus. We now have over 70 dietitians working in IMD in the UK, with all patients transitioning to adult services between the ages of 16 to 18 years of age. Many of the differences in services and management policies will be highlighted, using PKU as an example.
Management of phenylketonuria (PKU): Many of our patients have severe PKU and infants are screened 5 days of age and we have usually commenced treatment by day 12. Our policy is to restrict high protein foods, give a phenylalanine (Phe)-free-L-amino acid supplement, and allocate natural protein in the form of a 50 mg Phe exchange system (50 mg of Phe corresponds to about 1 g of natural protein). The exchange system works on the basis that the protein content of most foods contains 5% Phe (vegetables and fruit are an exception, with Phe accounting for 3–4% of protein content in most vegetables and 3% of protein content in fruits). After extensive research, we allow all fruits and vegetables (potatoes excepted) that contain a phenylalanine of ≤ 75mg/100g without measurement in the UK diet. Most of our protein substitutes (medical foods) used for children over 4 years of age are lower in carbohydrate, fat and consequently calories than USA medical foods. We use Phe-free infant formulas in infancy, ‘gel’ type protein substitutes are introduced from 6 months and liquid pouches usually from the age of 4 years. Protein substitutes and the majority of low protein special foods are available on the National Health Service (NHS) prescription system and are ‘free of charge’ for our children aged 16 years and under. Older patients have to make a small financial contribution towards their cost. We have started to use glycomacropeptide (GMP) but unfortunately, NHS England will currently not support the use of sapropterin.
In PKU, we aim to maintain blood phenylalanine levels up to the age of 12 years between 120 to 360 µmol/L and between 120 to 600 µmol/L after this age. We recommend treatment for life. Home monitoring of Phe is conducted regularly with patients having weekly blood Phe below 10 years of age and usually fortnightly to monthly thereafter. The UK is a small country, with the majority of our patients living within a 1-hour radius of each metabolic centre. This has enabled us to deliver a different style of care to our patients. All of our patients receive dietetic follow up in the homes as well as hospital. The frequency will depend on age, patient or parent skills and ability and adherence to dietary management.
The approach to PKU care will be compared with our management of other conditions.
1510-1540 Recent Clinical Data and Experience with GMP in PKU Treatment
Debra Hook, Metabolic Dietitian, Children’s Hospital Los Angeles, University of Southern California
1540-1600 Experiencing the PKU Diet, an RD’s Perspective
Geneviève Lafrance, Metabolic Dietitian, Fleurimont Hospital , l’Université de Sherbrooke