Nutritional evaluation

Introduction

Patients with GD have increased resting energy expenditure, which may contribute to their growth delay and cause them to be underweight (2). Therapies normalize children with GD growth and positively affect metabolism in all patients with GD. However, the nutritional status evaluation is helpful to timely detect malnutrition risk, selective malnutrition, and overweight or underweight. Additionally, malnutrition can exacerbate skeletal damage.

Evidence

Although there are no specific dietary guidelines for patients with GD, it is important to monitor the nutritional and metabolic status to create a suitable dietary plan which caters to each patient’s specific needs. In malnourished patients, an energy- and protein-rich diet is recommended. Nutritional evaluation is mandatory before a specific, personalized nutritional therapy is applied and should be repeated and monitored to evaluate nutritional treatment efficacy.

Recommendations:

The panel recommends monitoring nutritional status on a regular basis, including measurements of patients’ height (in children), weight, body composition, and laboratory testing.

Details

The most common sign of malnutrition is rapid involuntary weight loss. In children, malnutrition may manifest as a slowdown in the growth rate. In adult patients, the height reduction may signify vertebral collapse and skeletal complications.
Body composition can be assessed using simple clinical methods such as skinfold measurements and bioelectrical impedance analysis or using the more reliable (albeit more expensive and invasive) total body dual-energy X-ray absorptiometry (DXA), which is useful to monitor bone disease and body composition at the same time in adult patients with GD.
Useful laboratory tests for assessing a patient’s nutritional status include complete blood count, circulating lymphocyte count, plasma electrolytes, plasma albumin levels, transferrin, vitamins (vitamin D3, vitamin B12, folate), calcium, and in clinically justified situations, PTH and phosphates levels, electrolytes, urine nitrogen, iron, and ferritin. Serum albumin levels are often reduced in patients with malnutrition and are correlated with the clinical prognosis of many diseases.
Measuring fasting levels of glycemia and insulinemia and the homeostatic model assessment (HOMA) index to estimate insulin resistance is important in overweight patients with GD. Patients’ lipid profiles should also be monitored. Serum aspartate and alanine transaminase measurements can aid the identification of liver involvement, including metabolic dysfunction associated with fatty liver disease (MAFLD), which is often associated with metabolic syndrome.

Future LSDs research developments

Specific nutritional strategies may modulate autophagy, a process that is adversely affected by lysosomal storage dysfunction and contributes to GD pathogenesis. However, studies in humans are not available yet.

Autophagy is sensitive to the intake of energy and nutrients. Therefore, it may be possible to modulate it through pharmacological agents and diet. Ketone bodies activate autophagy and reduce inflammatory processes via the activation of AMP kinase. In vitro and animal models, the dietary modulation of the autophagic flux is under investigation. Fasting and caloric restriction may upregulate autophagy, as seen in animal models, but have not been investigated in humans. This approach, of course, may not be advisable in underweight or malnourished patients.

Latest news

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