Dietary dilemmas in the management of glycogen storage disease type I

Abstract

Over the last 50 years, understanding the biochemical bases of glycogen storage disease type I has led to vastly improved survival and health outcomes but the management still centres around an extremely intensive dietary regimen. Patients' metabolic profiles are really determined by the whole of the diet and it can be very difficult to adjust therapy accordingly. In an iso-energetic diet with reference total energy intake, high carbohydrate intake could compromise other macro- and micro-nutrients; if carbohydrates are not restricted then total energy intake is excessive. The quality of the macronutrient such as the glycemic index of carbohydrate, the type of sugar and the proportion of medium-chain triglyceride and essential fatty acids also has a bearing on an individual's long-term metabolic control with potential clinical correlates. These factors as well as the different requirements between individuals and within individuals as they get older mean that the management of glycogen storage disease type I is particularly fraught. Regular clinical and dietary review is imperative as patients grow, ensuring adequate but not excessive low glycaemic index carbohydrate intake, appropriate dynamic biochemical profiles and suitable age appropriate eating patterns. Without diligent management, and education that empowers the patient, these individuals can struggle in adult life.

Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study

“…Furthermore, these patients need to restrict simple sugars, fat and alcohol intake, resulting in a diet that is different from their peers'. This can limit or even hamper many social activities, such as going out for dinner or participate in a party (Bhattacharya 2011).…”

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

“…Therefore, the focus of the diet (Table 4) must go beyond simply preventing and treating hypoglycemia. 97 Cornstarch. Raw cornstarch (CS) has been used for the treatment of hypoglycemia in GSD I since the early 1980s.…”

“…A modified CS, Glycosade, is available in Europe and the United States for overnight treatment. 97 Because data are limited with regard to long-term use of Glycosade, the new therapy should be used only with close monitoring of markers of metabolic control. As with any changes to CS brand or dose, changes should be made under the supervision of the metabolic team with frequent BG monitoring.…”

“…97 Excess CS or taking CS too close to meal time reduces the appetite at meal time, limiting the intake of nutritious foods, and can result in nutrient deficiencies. 96 Overtreatment can also lead to worsening lactic acidosis.…”

Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study

“…Dietary treatment is the cornerstone of GSDI therapy (Rake et al 2002;Bhattacharya 2011;Kishnani et al 2014). A regular carbohydrate intake is necessary to avoid hypoglycemia and to achieve good metabolic control.…”