Ketogenic diet therapy for glucose transporter type 1 deficiency syndrome with food allergies: a case report / 中华临床营养杂志

ABSTRACT

The development of genetic testing technology has allowed the increasing diagnosis of inherited metabolic diseases. The principle of treatment of inherited metabolic diseases is to limit the intake of the substrates of a reaction that is impaired, reduce the accumulation of harmful metabolites, and replenish insufficient metabolites. Common inherited metabolic diseases include amino acid and peptide metabolism disorders, lipid and lipoprotein metabolism disorders, fatty acid and ketone metabolism disorders, carbohydrate metabolism disorders, and other metabolic disorders. Therefore, fine modification on the ratios of nutrients is required in the clinical nutrition treatment for such diseases. The commonly used approach is diet intervention. Here we report a case of a child with glucose transporter type 1 deficiency syndrome, who received the whole course nutritional management with dietary nutrient ratio modification, and discuss the role of ketogenic diet in this disease and its implementation. We aim to explore the significance of individualized dietary therapy in improving the prognosis and quality of life in children with inherited metabolic diseases.