Special Issue "Dietetics and Nutritional Aspects in Inherited Metabolic Diseases (IMD)"
A special issue of Nutrients (ISSN 2072-6643).
Deadline for manuscript submissions: closed (15 September 2019).
Interests: phenylketonuria; amino acids; metabolism; phenylalanine; tyrosine; succinylaceton; tyrosinemia
Interests: phenylketonuria; dietary treatment; protein substitutes; dietary adherence; feeding development
Special Issues, Collections and Topics in MDPI journals
The first treatable disease in the field of inherited metabolic diseases (IMD) was phenylketonuria (PKU). Not only was it the first to be treated, it was also the first disease that could be treated to prevent mental retardation, and moreover, not by a drug, but by dietary modification. Special medical formulae were produced in the hospital laboratory using recipes based on extensive lists of chemical ingredients. Scientists were generally skeptical about the impact of dietary treatment, and early, overzealous treatment was associated with inadequate growth, dietary deficiencies, poor development, and even death. Thereby, application of unproven dietary treatment in children required great courage by the early pioneers.
Knowing the early success of PKU dietary treatment, the early pioneers realized that the outcome of many more IMD conditions associated with high mortality or significant morbidity could be changed by dietary manipulation. This not only included IMD, affecting protein metabolism, but also carbohydrate and fat metabolism. The aims of dietary treatment differ according to the specific condition, but most dietary treated IMD are cause by the accumulation of substances that are toxic or affect normal function, or the effects of reduced ability to synthesize essential compounds. Conditions may be treated by adaptations to protein, fat, and carbohydrate intake, with supplementation with synthetic or modified protein, amino acids, triglycerides, or carbohydrate sources. This has led to the position of dieticians and nutritionists being pivotal in the field of IMD. Although the field of IMD is a relatively new specialty, we have significant dietary expertise with infants and children, and we are starting to gain expertise with adults. However, very little is known about the impact of the long-term use of synthetic diets in the elderly population, and even in infants and children there still is much to be learned.
The IMD field has expanded rapidly, but due to the rarity of conditions and a lack of research on IMD dietetic issues and IMD dieticians that dedicate their time to research, much of the current dietary practice is experience-generated rather than evidence-driven. This led to a remark in a Cochrane review that the diet in PKU was not proven to be necessary. Of course, few people would question the need to treat patients with PKU, but evidence is lacking to support many aspects of PKU dietary management even though this condition has been treated by diet for over 60 years. Evidence gaps must be addressed through systematic research, and this is why we welcome research manuscripts that study dietary treatments in IMD.
Prof. Francjan J. van Spronsen
Prof. Dr. Anita Macdonald
Manuscript Submission Information
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- protein substitute
- medical foods
- amino acids
- tyrosinaemia /tyrosinemia
- maple syrup urine disease
- nutritional support
- dietary management
- protein tolerance
- organic acidurias