Adherence Issues in Inherited Metabolic Disorders Treated by Low Natural Protein Diets

作者：MacDonald A^*; van Rijn M; Feillet F; Lund A M; Bernstein L; Bosch A M; Gizewska M; van Spronsen F J

来源：Annals of Nutrition and Metabolism, 2012, 61(4): 289-295.

DOI：10.1159/000342256

• Adherence
• Amino acids
• Dietary management
• Inborn errors of metabolism
• Phenylketonuria
• Urea cycle disorders

Common inborn errors of metabolism treated by low natural protein diets [amino acid (AA) disorders, organic acidemias and urea cycle disorders] are responsible for a collection of diverse clinical symptoms, each condition presenting at different ages with variable severity. Precursor-free or essential L-AAs are important in all these conditions. Optimal long-term outcome depends on early diagnosis and good metabolic control, but because of the rarity and severity of conditions, randomized controlled trials are scarce. In all of these disorders, it is commonly described that dietary adherence deteriorates from the age of 10 years onwards, at least in part representing the transition of responsibility from the principal caregivers to the patients. However, patients may have particular difficulties in managing the complexity of their treatment because of the impact of the condition on their neuropsychological profile. There are little data about their ability to self-manage their own diet or the success of any formal educational programs that may have been implemented. Trials conducted in non-phenylketonuria (PKU) patients are rare, and the development of specialist L-AAs for non-PKU AA disorders has usually shadowed that of PKU. There remains much work to be done in refining dietary treatments for all conditions and gaining acceptable dietary adherence and concordance, which is crucial for an optimal outcome.

• 出版日期2012