Abstract
Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial SLC2A1 gene mutations (n=11) and those with sporadic mutations (n=11).
Highlights
The milder phenotype observed in the familial group, and the reported phenotypic variability among family relatives, confirms the heterogeneity of the clinical expression of SLC2A1 mutations
This raises the question of the incidence of GLUT1DS, using a ketogenic diet in less symptomatic patients, and genetic counseling concerns
Authors suggest that symptomatic patients negative for SLC2A1 mutations should undergo screening in order to discover potential additional pathogenic genes. [1]
Summary
The milder phenotype observed in the familial group, and the reported phenotypic variability among family relatives, confirms the heterogeneity of the clinical expression of SLC2A1 mutations. This raises the question of the incidence of GLUT1DS, using a ketogenic diet in less symptomatic patients, and genetic counseling concerns. Authors suggest that symptomatic patients negative for SLC2A1 mutations should undergo screening in order to discover potential additional pathogenic genes.
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