Abstract
Common inherited metabolic disorders (IMD) treated by life-long diet therapy are responsible for a collection of diverse clinical conditions. The overall goal of nutritional treatment is to correct the metabolic imbalance whilst providing adequate nutritional support for normal growth and development. Each condition may present at a different age with a spectrum of disease severity and outcome, so designing a diet that has the ‘right balance’ between maintaining metabolic stability but is not unnecessarily ‘over-restrictive’ is challenging. Prescribed diets for IMD are individualised and need to consider the patient’s clinical condition, individual tolerances, metabolic stability, age, developmental ability and expected prognostic outcome. Feeding problems, malnutrition and growth failure are common complications. Systematic and observant nutritional follow-up, with regular monitoring of biochemical control, is essential to avoid nutritional deficiencies and identify early signs of adherence issues. Early counteractive measures can improve diet quality, metabolic control, and long-term outcome.
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MacDonald, A. (2017). Principles of Dietary Management. In: Hoffmann, G., Zschocke, J., Nyhan, W. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49410-3_21
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DOI: https://doi.org/10.1007/978-3-662-49410-3_21
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