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Case Reports
. 2022 Mar 10;19(6):3279.
doi: 10.3390/ijerph19063279.

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

Weronika Pawlik  1 , Patrycja Okulewicz  2 , Jakub Pawlik  3 , Elżbieta Krzywińska-Zdeb  2
Affiliations
Case Reports

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

Weronika Pawlik et al. Int J Environ Res Public Health. .

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: genetic disease; glucose transporter type 1 deficiency syndrome; neurology; pediatrics; rare disease.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Serum ketone body level changes in female patient 1.
Figure 2
Figure 2
Serum ketone body level changes in male patient 2.
Figure 3
Figure 3
Symptoms and the presence of genetic mutation in the family.
See this image and copyright information in PMC

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