Glucose transporter type 1 (GLUT1) deficiency syndrome (DS) is a metabolic brain disorder caused by a deficiency resulting from SLC2A1 gene mutation and is characterized by abnormal brain metabolism and associated metabolic encephalopathy. Reduced glucose supply to the brain leads to brain damage, resulting in delayed neurodevelopment in infancy and symptoms such as eye abnormalities, microcephaly, ataxia, and rigidity. Treatment options for GLUT1 DS include ketogenic diet (KD), pharmacotherapy, and rehabilitation therapy. Of these, KD is an essential and the most important treatment method as it promotes brain neurodevelopment by generating ketone bodies to produce energy. This case is a focused study on intensive KD nutritional intervention for an infant diagnosed with GLUT1 DS at Gangnam Severance Hospital from May 2022 to January 2023. During the initial hospitalization, nutritional intervention was performed to address poor intake via the use of concentrated formula and an attempt was made to introduce complementary feeding. After the second hospitalization and diagnosis of GLUT1 DS, positive effects on the infant’s growth and development, nutritional status, and seizure control were achieved with minimal side effects by implementing KD nutritional intervention and adjusting the type and dosage of anticonvulsant medications. In conclusion, for patients with GLUT1 DS, it is important to implement a KD with an appropriate ratio of ketogenic to nonketogenic components to supply adequate energy. Furthermore, individualized and intensive nutritional management is necessary to improve growth, development, and nutritional status.
Citations
Critically ill trauma patients generally show good nutritional status upon initial hospitalization. However, they have a high risk of malnutrition due to hyper-metabolism during the acute phase. Hence, suitable nutritional support is essential for the optimal recovery of these patients; therefore, outcomes such as preservation of fat-free mass, maintenance of immune functions, reduction in infectious complications, and prevention of malnutrition can be expected. In this report, we present the experience of a patient subjected to 40 days of nutritional interventions during postoperative intensive care unit (ICU) care. Although the patient was no malnutrition at ICU admission, enteral nutrition (EN) was delayed for > 2 weeks because of several postoperative complications. Subsequently, while receiving parenteral nutrition (PN), the patient displayed persistent hypertriglyceridemia. As a result, his prescription of PN were converted to lipid-free PN. On postoperative day (POD) #19, the patient underwent jejunostomy and started standard EN. A week later, the patient was switched to a high-protein, immune-modulating formula for postoperative wound recovery. Thereafter, PN was stopped, while EN was increased. In addition, because of defecation issues, a fiber-containing formula was administered with previous formula alternately. Despite continuous nutritional intervention, the patient experienced a significant weight loss and muscle mass depletion and was diagnosed with severe malnutrition upon discharge from the ICU. To conclude, this case report highlights the importance of nutrition interventions in critically ill trauma patients with an increased risk of malnutrition, indicating the need to promptly secure an appropriate route of feeding access for active nutritional support of patients in the ICU.
Citations
First
Prev
