Alternating Hemiplegia of Childhood in an Infant with Symptoms Resembling Glucose Transporter 1 Deficiency

2017 ◽  
Vol 15 (04) ◽  
pp. 180-182
Author(s):  
Mini Sreedharan ◽  
Shiji Chalipat ◽  
Kunju Mohammed ◽  
Kalpana Devadathan
Keyword(s):  
Developmental Delay ◽  
Glucose Transporter ◽  
Gene Mutations ◽  
Deficiency Syndrome ◽  
Global Developmental Delay ◽  
Glucose Transporter 1 ◽  
Alternating Hemiplegia Of Childhood ◽  
Slc2a1 Gene ◽  
Glut1 Deficiency ◽  
Atp1a3 Gene

AbstractGlucose transporter type 1 (glut1) deficiency syndrome presents with developmental delay, microcephaly, and recurrent seizures during infancy, as well as cerebrospinal fluid (CSF) hypoglycorrhachia and mutations in the SLC2A1 gene. We describe a baby with microcephaly, global developmental delay, seizures from 3 months of age, and CSF glucose in the lower limit of normal range, with heterozygous p.Glu815Lys mutation of the ATP1A3 gene and no mutation in the SLC2A1 gene. Mutations in ATP1A3 gene are associated with alternating hemiplegia of childhood (AHC). Interestingly the baby developed episodes of recurrent bouts of alternating hemiplegia from 13 months of age. The case is reported to highlight ATP1A3 mutation as a probable etiology for glut1 deficiency like syndrome and AHC. A brief review of literature emphasizing the overlapping paroxysmal and nonparoxysmal symptoms of the two conditions is also included.

scholarly journals GLUT1 deficiency syndrome: A case report with a novel SLC2A1 mutation

2019 ◽  
Vol 76 (5) ◽  
pp. 543-546 ◽  
Author(s):  
Nikola Ivancevic ◽  
Natasa Cerovac ◽  
Blazo Nikolic ◽  
Goran Cuturilo ◽  
Ana Marjanovic ◽  
...  
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Ketogenic Diet ◽  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Chromosome 1 ◽  
Brain Membrane ◽  
Slc2a1 Gene ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

Introduction. GLUT1 deficiency syndrome (GLUT1 DS, OMIM 606777) is a metabolic brain disorder caused by mutations in SLC2A1 gene (chromosome 1) encoding glucose transporter type 1 located on blood-brain membrane. The ?classic? phenotype in children includes early onset generalized farmacoresistant epilepsy, developmental delay, complex movement disorders and acquired microcephaly. However, there are milder phenotypes without epilepsy which could be seen in older children. The ketogenic diet is a treatment of choice. Case report. We present a four-yearold female patient with farmacoresistant generalized epilepsy, paroxysmal dystonic posturing, ataxia, hypotonia, developmental delay (motor, attention and speech disturbances), and microcephaly. The genetic testing revealed a novel point mutation at c.156T > A (p.Y52X) in exon 3 of SLC2A1 gene. The patient responded excellent on ketogenic diet. Conclusion. GLUT1 DS is treatable, and likely to be under-diagnosed neurological disorder. The ketogenic diet is resulting in good control of seizures in the patients, and it has certain benefit for the neurodevelopmental disability.

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

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.

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome

Blood ◽  
2011 ◽  
Vol 118 (19) ◽  
pp. 5267-5277 ◽  
Author(s):  
Joanna F. Flatt ◽  
Hélène Guizouarn ◽  
Nicholas M. Burton ◽  
Franck Borgese ◽  
Richard J. Tomlinson ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Deficiency Syndrome ◽  
Glucose Transporter 1 ◽  
3 Dimensional ◽  
Transporter Protein ◽  
Expression Studies ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome ◽  
Reticulocyte Maturation ◽  
Exercise Induced

Abstract The hereditary stomatocytoses are a series of dominantly inherited hemolytic anemias in which the permeability of the erythrocyte membrane to monovalent cations is pathologically increased. The causative mutations for some forms of hereditary stomatocytosis have been found in the transporter protein genes, RHAG and SLC4A1. Glucose transporter 1 (glut1) deficiency syndromes (glut1DSs) result from mutations in SLC2A1, encoding glut1. Glut1 is the main glucose transporter in the mammalian blood-brain barrier, and glut1DSs are manifested by an array of neurologic symptoms. We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and movement disorder. We now show that sdCHC is associated with mutations in SLC2A1 that cause both loss of glucose transport and a cation leak, as shown by expression studies in Xenopus oocytes. On the basis of a 3-dimensional model of glut1, we propose potential mechanisms underlying the phenotypes of the 2 mutations found. We investigated the loss of stomatin during erythropoiesis and find this occurs during reticulocyte maturation and involves endocytosis. The molecular basis of the glut1DS, paroxysmal exercise-induced dyskinesia, and sdCHC phenotypes are compared and discussed.

scholarly journals SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome

2011 ◽  
Vol 56 (12) ◽  
pp. 846-851 ◽  
Author(s):  
Natsuko Hashimoto ◽  
Kuriko Kagitani-Shimono ◽  
Norio Sakai ◽  
Takanobu Otomo ◽  
Koji Tominaga ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Japanese Patients ◽  
Deficiency Syndrome ◽  
Gene Analysis ◽  
Glucose Transporter 1 ◽  
Slc2a1 Gene

scholarly journals Glucose Transporter 1 deficiency and associated conditions in children

2019 ◽  
Vol 64 (5) ◽  
pp. 155-158
Author(s):  
R. G. Gamirova ◽  
Z. Afawi ◽  
R. R. Gamirova ◽  
E. A. Gorobets ◽  
V. F. Prusakov ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Early Stage ◽  
Pathological Condition ◽  
Clinical Manifestations ◽  
Deficiency Syndrome ◽  
Psychomotor Retardation ◽  
Type I ◽  
Effective Treatment Option ◽  
Glucose Transporter 1 ◽  
Slc2a1 Gene

The article reviews literature devoted to the glucose transporter type I deficiency syndrome (synonyms: GLUT1 deficiency syndrome, de Vivo disease), that is a genetically determined disease caused by pathogenic variants of the SLC2A1 gene. The insufficiency of this protein leads to the disruption of glucose delivery to the brain through the blood-brain barrier. Clinically, the syndrome is manifested by epileptic seizures (mainly as absences or myoclonic seizures), various motor disorders and psychomotor retardation starting from the early age.Early diagnosis (including molecular genetic analysis of the SLC2A1 gene) enables us to start treatment and prevent progression of the symptoms, and to provide the family with genetic consultation on the prognosis and risks for the next generations. Ketogenic diet is an effective treatment option for this pathological condition, it can lead to a regression of the clinical manifestations, especially on the early stage.

Another Case of Glucose Transporter 1 Deficiency Syndrome with Periventricular Calcification, Cataracts, Hemolysis, and Pseudohyperkalemia

2017 ◽  
Vol 48 (05) ◽  
pp. 390-393 ◽  
Author(s):  
Katsuhiro Kobayashi ◽  
Harumi Yoshinaga ◽  
Hiroaki Ono ◽  
Michiko Shinpo ◽  
Kuriko Kagitani-Shimono ◽  
...  
Keyword(s):  
Glucose Transporter ◽  
Clinical Symptoms ◽  
Laboratory Data ◽  
Diet Therapy ◽  
Deficiency Syndrome ◽  
Clinical Findings ◽  
Red Cell Membrane ◽  
Glucose Transporter 1 ◽  
Eeg Abnormalities ◽  
Slc2a1 Gene

AbstractGlucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) is a disorder resulting from shortage of energy in the brain caused by reduced GLUT1 activity. Its common clinical symptoms include seizures, microcephaly, intellectual disability, abnormal ocular movements, ataxia, and dystonia. We report a case of GLUT1DS with unusual symptoms, including periventricular calcification. The patient is a Japanese girl, whose seizures had always evolved into status epilepticus since she was 4 months old. She also had cataracts and horizontal nystagmus. Neuroimaging studies showed periventricular calcification and brain atrophy. Laboratory data revealed pseudohyperkalemia, reticulocyte increase, and hypoglycorrhachia. A mutation of c1306_1308delATC (p.Ile436del) was identified in the SLC2A1 gene, and she was thus diagnosed with GLUT1DS. A case with the identical SLC2A1 gene mutation and similar clinical findings was previously reported by Bawazir et al (2012). The leak of monovalent cations through the red cell membrane causes hemolysis in such patients, and a similar phenomenon may occur at the blood–brain barrier and the lens epithelium. After commencing ketogenic diet therapy, the electroencephalogram (EEG) abnormalities improved markedly and the patient's development advanced. Clinicians should be aware of atypical GLUT1DS.

scholarly journals Clinical and Genetic Characteristics of Chinese Children With GLUT1 Deficiency Syndrome: Case Report and Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Qingqing Hu ◽  
Yuechi Shen ◽  
Tangfeng Su ◽  
Yan Liu ◽  
Sanqing Xu
Keyword(s):  
Developmental Delay ◽  
Ketogenic Diet ◽  
Movement Disorders ◽  
Epileptic Seizures ◽  
Deficiency Syndrome ◽  
Chinese Children ◽  
Chinese Family ◽  
Slc2a1 Gene ◽  
Glut1 Deficiency ◽  
Glut1 Deficiency Syndrome

Objective: GLUT1 deficiency syndrome (GLUT1-DS) is a rare, treatable neurometabolic disorder. However, its diagnosis may be challenging due to the various and evolving phenotypes. Here we report the first Chinese familial cases with genetically confirmed GLUT1-DS and analyze the characteristics of Chinese children with GLUT1-DS from clinical, laboratory, and genetic aspects.Methods: We reported a Chinese family with three members affected with GLUT1-DS and searched for relevant articles up to September 2020 from PubMed, WOS, CNKI, and WanFang databases. A total of 30 Chinese patients diagnosed with GLUT1-DS (three newly identified patients in one family and 27 previously reported ones) were included and analyzed in this study.Results: The median age of onset of the 30 patients (male: 18, female: 12) was 8.5 months (range, 33 days to 10 years). Epileptic seizures were found in 25 patients, most with generalized tonic–clonic and focal ones. Movement disorders were found in 20 patients—frequently with ataxia and dystonia, developmental delay in 25 patients, and microcephaly only in six patients. The cerebrospinal fluid (CSF) analysis showed decreased CSF glucose (median: 1.63 mmol/L, range: 1.1–2.6 mmol/L) and glucose ratio of CSF to blood (median: 0.340; range: 0.215–0.484). The genetic testing performed in 28 patients revealed 27 cases with pathogenic variations of the SLC2A1 gene, including 10 missense, nine frameshift, three nonsense, three large fragment deletions, and two splice-site mutations. Most patients had a good response to the treatment of ketogenic diet or regular diet with increased frequency. Although three patients in this Chinese family carried the same pathogenic mutation c.73C > T (p.Q25X) in the SLC2A1 gene, their symptoms and responses to treatment were not exactly the same.Conclusion: The clinical manifestations of GLUT1-DS are heterogeneous, even among family members sharing the same mutation. For children with unexplained epileptic seizures, developmental delay, and complex movement disorders, detection of low CSF glucose or SLC2A1 gene mutations is helpful for the diagnosis of GLUT1-DS. Early initiation of ketogenic diet treatment significantly improves the symptoms and prognosis of GLUT1-DS.

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