scholarly journals 720 Neurocognitive profile of milder phenotypes of glucose transporter type 1 deficiency syndrome (a case series)

2021 ◽  
Author(s):  
Kate Scarff ◽  
Jessica Lee ◽  
Geetha Anand
Keyword(s):  
Glucose Transporter ◽  
Case Series ◽  
Deficiency Syndrome ◽  
Neurocognitive Profile

scholarly journals Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series

2021 ◽  
Vol 27 (3) ◽  
pp. 343-346
Author(s):  
Miraç Yıldırım ◽  
Ömür Babayiğit ◽  
Fatma Ilgaz ◽  
Dilek Yalnızoğlu ◽  
Meral Topçu
Keyword(s):  
Glucose Transporter ◽  
Case Series ◽  
Deficiency Syndrome ◽  
Single Center

Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome

2021 ◽  
Author(s):  
Kingthong Anurat ◽  
Chaiyos Khongkhatithum ◽  
Thipwimol Tim-Aroon ◽  
Chanin Limwongse ◽  
Lunliya Thampratankul
Keyword(s):  
Sleep Disorder ◽  
Developmental Delay ◽  
Daytime Sleepiness ◽  
Glucose Transporter ◽  
Focal Epilepsy ◽  
Deficiency Syndrome ◽  
Clinical Findings ◽  
Whole Body ◽  
Global Developmental Delay

AbstractGlucose transporter type-1 deficiency syndrome (Glut1 DS) is a rare disorder with various manifestations. Early diagnosis is crucial because treatment with the ketogenic diet can lead to clinical improvement. Here, we report the cases of two siblings with Glut1 DS and one of them presented with sleep disorder which is a rare and atypical manifestation of Glut1 DS. Patient 1 was a 3.5-year-old boy who presented with paroxysmal loss of tone and weakness of the whole body with unresponsiveness after waking up. He also had excessive daytime sleepiness, insomnia, and restless sleep. His other clinical findings included focal seizures, paroxysmal exercise-induced dyskinesia (PED), ataxia, mild global developmental delay, and hyperactivity. Patient 2 was a 5.5-year-old boy who presented with drug-resistant focal epilepsy, global developmental delay, paroxysmal dystonia, and ataxia. A novel heterozygous nonsense variant of SLC2A1, c.1177G > T (p.Glu393*), classified as a pathogenic variant, was identified in both patients, but not in their parents' blood. After treatment with the modified Atkins diet, their neurological functions significantly improved. In conclusion, we reported two siblings with variable phenotypes of Glut1 DS with a novel nonsense mutation. Although sleep disorder and daytime somnolence were the nonclassical manifestations of Glut1 DS, the diagnostic evaluation of possible Glut1 DS in patients presented with daytime sleepiness, particularly in cases with the cooccurrence of seizures or movement disorders should be considered.

Glucose Transporter Type 1 Deficiency Syndrome

2018 ◽  
Author(s):  
Cigdem I. Akman ◽  
Darryl C. De Vivo
Keyword(s):  
Glucose Transporter ◽  
Deficiency Syndrome

scholarly journals Keeping Glucose Transporter Type 1 Deficiency Syndrome in Mind: A Late Diagnosis and Unusual Neuroimage Findings

2019 ◽  
Vol 6 (4) ◽  
pp. 291-293 ◽  
Author(s):  
Victoria Ros‐Castelló ◽  
Rafael Toledano ◽  
Juan S. Martínez‐San‐Millán ◽  
Araceli Alonso‐Canovas
Keyword(s):  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Late Diagnosis

Perioperative Management of a Child With Glucose Transporter Type 1 Deficiency Syndrome

2018 ◽  
Vol 11 (2) ◽  
pp. 35-37
Author(s):  
Tsubasa Yoshida ◽  
Kazuyoshi Shimizu ◽  
Satoshi Suzuki ◽  
Yoshikazu Matsuoka ◽  
Hiroshi Morimatsu
Keyword(s):  
Glucose Transporter ◽  
Perioperative Management ◽  
Deficiency Syndrome

Long-term effects of the ketogenic diet on growth in children with resistant drug epilepsy and Glucose Transporter Type 1 Deficiency Syndrome

2019 ◽  
Vol 29 (8) ◽  
pp. 884
Author(s):  
Cinzia Ferraris ◽  
Valentina De Giorgis ◽  
Ilaria Brambilla ◽  
Monica Guglielmetti ◽  
Claudia Trentani ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Long Term Effects

scholarly journals Impact of the Ketogenic Diet on Linear Growth in Children: A Single-Center Retrospective Analysis of 34 Cases

Nutrients ◽  
2019 ◽  
Vol 11 (7) ◽  
pp. 1442 ◽  
Author(s):  
Ferraris ◽  
Guglielmetti ◽  
Pasca ◽  
De Giorgis ◽  
Ferraro ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Growth Retardation ◽  
Glucose Transporter ◽  
Linear Growth ◽  
Deficiency Syndrome ◽  
Drug Resistant ◽  
Drug Resistant Epilepsy ◽  
Age Range ◽  
The Impact

Data on the impact of the ketogenic diet (KD) on children’s growth remain controversial. Here, we retrospectively investigated the occurrence of linear growth retardation in 34 children (47% males; age range: 2−17 years) diagnosed with drug-resistant epilepsy (DRE; n = 14) or glucose transporter type 1 deficiency syndrome (GLUT1-DS; n = 20) who had been treated with the KD for 12 months. The general characteristics of children with and without growth retardation were also compared. All participants received a full-calorie, traditional KD supplemented with vitamins, minerals, and citrate. Most children (80%; 11/14 in the DRE subgroup and 16/20 in the GLUT1-DS subgroup) treated with the KD did not show growth retardation at 12 months. Although participants with and without delay of growth did not differ in terms of baseline clinical characteristics, dietary prescriptions, or supplementation patterns, marked ketosis at 12 months tended to occur more frequently in the latter group. Altogether, our results indicate that growth retardation may occur in a minority of children treated with the KD. However, further research is required to identify children at risk and to clarify how increased ketones levels may affect endocrine pathways regulating growth during KD administration.

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