Prader-Willi syndrome is a complex, multidimensional disease affecting approximately 1 in 8000 to 1 in 50 000 individuals. Although there is an abundance of data available regarding Prader-Willi syndrome, there are few sources of compiled, nutritionally pertinent information. Nutrition intervention is currently the only treatment for Prader-Willi syndrome, and therefore it is critical that nutrition professionals have an understanding of the disease. This review provides background information regarding Prader-Willi syndrome and the causes of obesity and hyperphagia, as well as outlines current nutritional recommendations and strategies for working with individuals with Prader-Willi syndrome. It is recommended that the diet of these children be strictly controlled and structure provided, yet it is important to allow for some flexibility to enhance quality of life. Behavioral issues also need to be considered as they render it a challenge for parents to impose restrictions on their children’s eating patterns.
Long referred to as the powerhouses of human cellular function, mitochondria are responsible for converting nutrients derived from food into adenosine triphosphate, the principal intracellular energy source on which normal eukaryotic cell function is entirely dependent. Although disease of the mitochondria is still considered to be relatively rare, diagnosis of the many mitochondrial respiratory chain disorders is on the rise, and it remains the most prevalent group of inherited neurometabolic diseases. Diagnosis is complicated by poor differentiation between signs and symptoms of other diseases, and the testing process is rigorous at best. Along with pharmaceutical intervention, nutrition is the primary means of support in these individuals, with a focus on adequate energy intake coupled with cofactor and vitamin supplementation. Unfortunately, as with all rare diseases, there is a distinct lack of adequate research to support one treatment over another. This article examines the current research regarding mitochondrial disease and dysfunction, primarily within the context of respiratory chain disorders diagnosed in childhood, and provides a general overview for health care workers and laypersons of nutritional interventions that may be needed to support adequate growth and development in pediatric patients with these diseases.
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