Novel mutation in a patient with late onset GLUT1 deficiency syndrome

2017 ◽  
Vol 39 (4) ◽  
pp. 352-355 ◽  
Author(s):  
Sandra Juozapaite ◽  
Ruta Praninskiene ◽  
Birute Burnyte ◽  
Laima Ambrozaityte ◽  
Birute Skerliene
Keyword(s):  
Late Onset ◽  
Novel Mutation ◽  
Deficiency Syndrome ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

GLUT1 deficiency syndrome – A novel phenotype and a novel mutation

2008 ◽  
Vol 39 (05) ◽  
Author(s):  
C Rauscher ◽  
H Scheffer ◽  
M Kasahara ◽  
J Klepper
Keyword(s):  
Novel Mutation ◽  
Deficiency Syndrome ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

scholarly journals Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases

Nutrients ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 840
Author(s):  
Jana Ruiz Herrero ◽  
Elvira Cañedo Villarroya ◽  
Luis González Gutiérrez-Solana ◽  
Beatriz García Alcolea ◽  
Begoña Gómez Fernández ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Laboratory Assessment ◽  
Modified Atkins Diet ◽  
Atkins Diet ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome ◽  
The Impact

Background: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is caused by mutations in the SLC2A1 gene and produces seizures, neurodevelopmental impairment, and movement disorders. Ketogenic dietary therapies (KDT) are the gold standard treatment. Similar symptoms may appear in SLC2A1 negative patients. The purpose is to evaluate the effectiveness of KDT in children with GLUT1DS suspected SLC2A1 (+) and (-), side effects (SE), and the impact on patients nutritional status. Methods: An observational descriptive study was conducted to describe 18 children (January 2009–August 2020). SLC2A1 analysis, seizures, movement disorder, anti-epileptic drugs (AEDS), anthropometry, SE, and laboratory assessment were monitored baseline and at 3, 6, 12, and 24 months after the onset of KDT. Results: 6/18 were SLC2A1(+) and 13/18 had seizures. In these groups, the age for debut of symptoms was higher. The mean time from debut to KDT onset was higher in SLC2A1(+). The modified Atkins diet (MAD) was used in 12 (5 SLC2A1(+)). Movement disorder improved (4/5), and a reduction in seizures >50% compared to baseline was achieved in more than half of the epileptic children throughout the follow-up. No differences in effectiveness were found according to the type of KDT. Early SE occurred in 33%. Long-term SE occurred in 10, 5, 7, and 5 children throughout the follow-up. The most frequent SE were constipation, hypercalciuria, and hyperlipidaemia. No differences in growth were found according to the SLC2A1 mutation or type of KDT. Conclusions: CKD and MAD were effective for SLC2A1 positive and negative patients in our cohort. SE were frequent, but mild. Permanent monitoring should be made to identify SE and nutritional deficits.

Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene

2011 ◽  
Vol 21 (2) ◽  
pp. 200-202 ◽  
Author(s):  
Sarenur Gökben ◽  
Sanem Yılmaz ◽  
Joerg Klepper ◽  
Gül Serdaroğlu ◽  
Hasan Tekgül
Keyword(s):  
Hot Spot ◽  
Deficiency Syndrome ◽  
Slc2a1 Gene ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome ◽  
Video Eeg

Glucose Transporter-1 (GLUT1) Deficiency Syndrome: Diagnosis and Treatment in Late Childhood

2012 ◽  
Vol 43 (03) ◽  
pp. 168-171 ◽  
Author(s):  
Gwendolyn Gramer ◽  
Nicole Wolf ◽  
Daniel Vater ◽  
Thomas Bast ◽  
René Santer ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Diagnosis And Treatment ◽  
Late Childhood ◽  
Glucose Transporter 1 ◽  
Syndrome Diagnosis ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness

2015 ◽  
Vol 23 (1) ◽  
pp. e1-e3
Author(s):  
C. Giliberto ◽  
E. Reggio ◽  
V. Sofia ◽  
L. Giuliano ◽  
S. Lo Fermo ◽  
...  
Keyword(s):  
Deficiency Syndrome ◽  
Adult Onset ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro

2003 ◽  
Vol 162 (2) ◽  
pp. 84-89 ◽  
Author(s):  
Jörg Klepper ◽  
Anne Flörcken ◽  
Jorge Fischbarg ◽  
Thomas Voit
Keyword(s):  
Glucose Transport ◽  
Deficiency Syndrome ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

scholarly journals Long-Term Effects of a Classic Ketogenic Diet on Ghrelin and Leptin Concentration: A 12-Month Prospective Study in a Cohort of Italian Children and Adults with GLUT1-Deficiency Syndrome and Drug Resistant Epilepsy

Nutrients ◽  
2019 ◽  
Vol 11 (8) ◽  
pp. 1716 ◽  
Author(s):  
Ramona De Amicis ◽  
Alessandro Leone ◽  
Chiara Lessa ◽  
Andrea Foppiani ◽  
Simone Ravella ◽  
...  
Keyword(s):  
Body Composition ◽  
Nutritional Status ◽  
Body Fat ◽  
Deficiency Syndrome ◽  
Drug Resistant ◽  
Z Score ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome ◽  
Drug Resistant Epilepsy

The classical ketogenic diet (cKD) is an isocaloric, high fat, very low-carbohydrate diet that induces ketosis, strongly influencing leptin and ghrelin regulation. However, not enough is known about the impact of a long-term cKD. This study evaluated the effects of a 12-month cKD on ghrelin and leptin concentrations in children, adolescents and adults affected by the GLUT1-Deficiency Syndrome or drug resistant epilepsy (DRE). We also investigated the relationship between the nutritional status, body composition and ghrelin and leptin variations. We carried out a longitudinal study on 30 patients: Twenty-five children and adolescents (15 females, 8 ± 4 years), and five adults (two females, 34 ± 16 years). After 12-monoths cKD, there were no significant changes in ghrelin and leptin, or in the nutritional status, body fat, glucose and lipid profiles. However, a slight height z-score reduction (from −0.603 ± 1.178 to −0.953 ± 1.354, p ≤ 0.001) and a drop in fasting insulin occurred. We found no correlations between ghrelin changes and nutritional status and body composition, whereas leptin changes correlated positively with variations in the weight z-score and body fat (ρ = 0.4534, p = 0.0341; ρ = 0.5901, p = 0.0135; respectively). These results suggest that a long-term cKD does not change ghrelin and leptin concentrations independently of age and neurological condition.

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