Leukoencephalopathy in infancy with glucose transporter type 1 deficiency syndrome
نویسندگان
چکیده
منابع مشابه
Intermittent Ataxia with Early Onset Absence Epilepsy in Glucose Transporter Type 1 Deficiency Syndrome.
A 4-year-old girl, born to healthy non consanguineous parents after an uneventful pregnancy and delivery with normal birth weight, presented with history of absence seizures and ataxia since 7 months of age. Absence seizures and ataxia were worse in the fasting state. She was otherwise able to walk and run, and had a normal speech. On examination, she had microcephaly (head circumference 46 cm)...
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Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1-DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1-DS with predominant movement disorders, 18 patients with movement disorders attributed to other genetic defects, and 346 healthy con...
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Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine 'transportopathy' to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified a new cohort of patients with dopamine transporter deficiency syndrome, including, most significantly, atypical presentation later in childhoo...
متن کاملGene therapy for a mouse model of glucose transporter-1 deficiency syndrome
OBJECTIVE We generated an adeno-associated virus (AAV) vector in which the human SLC2A1 gene was expressed under the synapsin I promoter (AAV-hSLC2A1) and examined if AAV-hSLC2A1 administration can lead to functional improvement in GLUT1-deficient mice. METHODS AAV-hSLC2A1 was injected into heterozygous knock-out murine Glut1 (GLUT1+/-) mice intraperitoneally (systemic; 1.85 × 1011 vg/mouse) ...
متن کاملGlucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients...
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ژورنال
عنوان ژورنال: Pediatrics & Neonatology
سال: 2021
ISSN: 1875-9572
DOI: 10.1016/j.pedneo.2020.08.010