Good outcome in patients with early dietary treatment of GLUT‐1 deficiency syndrome: results from a retrospective Norwegian study

Abstract

Aim The aim of this study was to characterize patients diagnosed with glucose transporter protein‐1 deficiency syndrome (GLUT‐1 DS) clinically and genetically, and to evaluate the effect of treatment with the classic ketogenic or modified Atkins diet. Method We retrospectively studied medical records of 10 patients diagnosed with GLUT‐1 DS. Four females and six males with a median age of 15 years were included. Results The study illustrates the genetic and clinical heterogeneity of GLUT‐1 DS. Analysis of the SLC2A1 gene disclosed a variety of mutation types. The time between onset of symptoms and diagnosis was more than 11 years on average. The outcome in those with early diagnosis and intervention was surprisingly good. All but one patient with the classic phenotype became seizure free after treatment with the classic ketogenic or modified Atkins diet. Acetazolamide was effective in one patient with paroxysmal exercise‐induced dyskinesia. A point prevalence of GLUT‐1 DS in Norway was estimated as 2.6 per 1 000 000 inhabitants. Interpretation Although the long‐term prognosis in patients with GLUT‐1 DS partly depends on the underlying genetics, our study supports the assumption that early initiation of treatment with a ketogenic diet may positively affect the outcome.

Short-term effects of ketogenic diet on anthropometric parameters, body fat distribution, and inflammatory cytokine production in GLUT1 deficiency syndrome

“…To date, about 200 patients have been identified in the world mainly in the United States and Europe [17]. The Norway National Registry indicates a point prevalence of 2.6 per 1 million inhabitants [18]. In Italy, a national registry of GLUT1 DS is not yet available and the prevalence cannot be estimated.…”

The role for ketogenic diets in epilepsy and status epilepticus in adults

“…The ketogenic diet is the standard treatment for glucose transporter type 1 (GLUT1) deficiency, a rare genetic condition caused by impaired glucose transport into the brain and associated with an abnormality in the gene SLC2A1 (De Vivo et al, 1991). Studies have shown up to 90% of patients with seizure freedom on the ketogenic diet or modified Atkins diet, including adults (Cervenka et al, 2017a, Ramm-Pettersen et al, 2013). Similarly, for patients with pyruvate dehydrogenase deficiency, where the diet overcomes the deficiencies in the catalytic component of the mitochondrial enzyme pyruvate dehydrogenase complex by providing an alternative source of acetyl coenzyme A, the ketogenic diet is considered first-line therapy and should be implemented as soon as the patient is identified (Kass et al, 2016, Klepper and Leiendecker, 2007, Pong et al, 2012).…”

Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome

“…Total IQ improvement was found in 1/13 patients in an Italian group (De Giorgis et al., ) and in 4/6 patients in a Japanese population (Ito et al., ). Younger patients demonstrated the most noteworthy response on KD (Ramm‐Pettersen et al., ).…”