Diagnostic and Clinical Manifestation Differences of Glucose Transporter Type 1 Deficiency Syndrome in a Family with SLC2A1 Gene Mutation

Weronika Pawlik, Patrycja Okulewicz, Jakub Pawlik and Elżbieta Krzywińska-Zdeb
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Weronika Pawlik: Department of Pediatric Hematooncology and Gastroenterology, Pomeranian Medical University, 71-252 Szczecin, Poland
Patrycja Okulewicz: Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, 71-252 Szczecin, Poland
Jakub Pawlik: Department of Orthopaedics, Traumatology and Orthpaedic Oncology, Pomeranian Medical University, 71-252 Szczecin, Poland
Elżbieta Krzywińska-Zdeb: Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, 71-252 Szczecin, Poland

IJERPH, 2022, vol. 19, issue 6, 1-7

Abstract: Glucose transporter type 1 deficiency syndrome is a rare genetic disease that manifests neurological symptoms such as mental impairment or movement disorders, mostly seen in pediatric patients. Here, we highlight the main symptoms, diagnostic difficulties, and genetic correlations of this disease based on different clinical presentations between the members of a family carrying the same mutation. In this report, we studied siblings—a 5-year-old girl and a 6-year-old boy—who were admitted to a pediatric ward with various neurological symptoms. Different diagnostic procedures such as lumbar puncture, electroencephalography, and MRI of the brain were performed on these patients. Whole genome sequencing identified mutations in the SLC2A1 and GLUT1-DS genes, following which a ketogenic diet was implemented. This diet modification resulted in a good clinical response. Our case report reveals patients with the same genetic mutations having distinctive clinical manifestations.

Keywords: glucose transporter type 1 deficiency syndrome; pediatrics; genetic disease; rare disease; neurology (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
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