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Acta Myol. 2011 December; 30(3): 208–209.
PMCID: PMC3298094

S2.5 The nutritional approach to Pompe disease

The progressive muscular damage in patients affected by Glycogenosis type II can be slowed down through lifestyle changes based on a specific dietotherapy and daily physical exercise. Dietary treatment provides for a diet made up of proteins (25-30%), carbohydrates (30-35%), fat (35-40%), that is a high-protein diet for the most part. Patients suffering such thesaurismosis need a higher amount of proteins since the increase in amino acids, which function as substrate for the synthesis of proteins, could make up for the proteolysis of muscular tissue. Proteins coming from meat, fish, egg, and dairy products are to be preferred; such food, moreover, is rich in alanine, an amino acid playing a key role in glycide metabolism and, consequently, in the employment of glucose as a source of energy. So much so that a further oral supplement is recommended, in a dose of 0,4g/kg divided 3-4 times per day. Lipids are recommended in the form of unsaturated fats (omega-3, which are mainly contained in bluefish) and saturated fats (omega-6, which are mainly contained in olive oil, dried fruit and cereals), reducing to a minimum saturated ones due to their aterogenic effect. The assumption of carbohydrates must not only be reduced to 30- 35%, but also distributed in the space of a day. The "a little and often" rational consists in avoiding the build-up of glycogen on the one hand, and hypoglycaemia on the other. Among complex carbohydrates wholemeal ones such as cereals, legumes, and wholemeal pasta are to be preferred, in small helpings; whereas, among simple ones, dried or skinned (if fresh) fruit; such recommendation aims at increasing the input of fibres in order to counter constipation, which is often found in those patients. Muscular pain, in fact, can also concern the gastrointestinal system, with consequent dysphagia, gastroesophageal reflux, gastroparesis and a reduction in appetite. Such conditions are treated with dietary and pharmacological measures to avoid malnutrition. In the team in charge of treatment, the presence of a physiotherapist is essential to carry out exercises in coordination and contraction of facial muscles, postural training and rehabilitation to tasting. Anthropometric data and bodily composition represent parameters that must be carefully considered to monitor the clinical picture and the response to treatment. Calculation of the body mass index (BMI), plicometry and waistline measurement are useful evaluations, but they are not enough for the study of fat and muscle mass. To this end, bodily bioimpedentiometry (BIA) is a system of enquiry more frequently used. Pompe disease is a cronic, progressive, and crippling disease, so an appropriate lifestyle is necessary, which can be obtained by learning how to self-manage the disease. Dietary advice is not enough: a biopsychopedagogic approach, based on an empathetic relationship between patient and medical team, is necessary.

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