Variety of symptoms of GLUT1 deficiency syndrome in three-generation family

Winczewska‐Wiktor, Anna; Hoffman-Zacharska, Dorota; Starczewska, Monika; Kaczmarek, Izabela; Badura‐Stronka, Magdalena; Steinborn, Barbara

doi:10.1016/j.yebeh.2020.107036

Cited by 10 publications

(16 citation statements)

References 25 publications

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“…Non-classical phenotypes include exercise-induced paroxysmal dyskinesia, "atypical" childhood absence epilepsy, and myoclonic astatic epilepsy; seizures may never occur (14)(15)(16)(17). The present family showed an intrafamilial phenotypic variability, already described in GLUT1-DS (18); the son manifested a classical phenotype with a developmental and epileptic encephalopathy whose diagnosis was supported by biochemical and genetic analysis, whereas his father showed only few typical GLUT1-DS features such as mild cognitive impairment, microcephaly, gait unsteadiness, and mild movement disorders (choreoathetoid features) but no seizures, even though he harbored the same R333W mutation in SCL2A1 confirming the GLUT1-DS diagnosis.…”

Section: Discussionsupporting

confidence: 61%

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies

et al. 2020

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Section: Discussionsupporting

confidence: 61%

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies

et al. 2020

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“…This disorder belongs to a few treatable neurometabolic disorders, therefore an early detection of Glut1-DS is essential for prompt introduction of ketogenic diet, which enables normal neurodevelopment and can improve patient's life. Establishing the diagnosis of Glut1-DS can sometimes be challenging due to the variability of the clinical picture, the age of onset and phenotypic evolution over time [7]. However, our patient with intellectual disability presented with number of symptoms characteristic for Glut1-DS.…”

Section: Discussionmentioning

confidence: 89%

“…The milder variant of Glut1 deficiency syndrome may start later on during lifetime. The intermediate phenotypes are also encountered [5,7]. Patients with Glut1-DS often show daily fluctuation of the mide, levetiracetam, lacosamide and topiramate was performed in various configurations, with no improvement.…”

Section: Introductionmentioning

confidence: 99%

Why should a neuropaediatrician always measure head circumference - a case report of Glucose transporter 1 deficiency syndrome (Glut1-DS)

Oleksy¹,

Mierzewska²,

Lipiec³

et al. 2020

Child Neurology

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Introduction. The deficit of the type 1 glucose transporter (Glut1-DS) belongs to the neurometabolic disorders that can be effectively treated, in this case with ketogenic diet. By limiting glucose supply to the brain the deficit of glucose transporter 1 leads to cerebral energy deficiency. Glut1-DS manifests with a wide range of neurological symptoms that usually start in early childhood, including cognitive impairment, epilepsy and permanent and/or paroxysmal motor disorders, often provoked by physical activity, fasting or hyperthermale. Aim. We present the case of a 6,5-year-old patient with Glut1- -DS who, despite presenting typical symptoms, remained undiagnosed for years. Family history was positive of intellectual disability in first degree relative. The child suffered from psychomotor development delay, motor coordination difficulties, motor disorders and epilepsy with focal and absence seizures of early onset. However, the significant symptom of secondary microcephaly remained unnoticed for years. Conclusion. Secondary microcephaly is a valuable symptom which can guide towards the diagnosis. The early diagnosis of Glut1 deficiency syndrome enables prompt introduction of the ketogenic diet crucial for the child’s development and improvement of both the patients and their families’ quality of life.

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“…Furthermore, diagnosing a child might result in making a similar diagnosis in the parent, who was not properly diagnosed before. However, such a familial occurrence is rarely described in the literature—there are only a handful of cases described including ours [ 13 , 18 , 19 , 20 ]. Yet, there are some patients suffering from GLUT1-DS (diagnosed based on the clinical presentation and CSF analysis) with no genetic abnormalities in the SLC2A1 gene [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

Diagnostic and Clinical Manifestation Differences of Glucose Transporter Type 1 Deficiency Syndrome in a Family with SLC2A1 Gene Mutation

Pawlik

Okulewicz

Pawlik

et al. 2022

IJERPH

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Glucose transporter type 1 deficiency syndrome is a rare genetic disease that manifests neurological symptoms such as mental impairment or movement disorders, mostly seen in pediatric patients. Here, we highlight the main symptoms, diagnostic difficulties, and genetic correlations of this disease based on different clinical presentations between the members of a family carrying the same mutation. In this report, we studied siblings—a 5-year-old girl and a 6-year-old boy—who were admitted to a pediatric ward with various neurological symptoms. Different diagnostic procedures such as lumbar puncture, electroencephalography, and MRI of the brain were performed on these patients. Whole genome sequencing identified mutations in the SLC2A1 and GLUT1-DS genes, following which a ketogenic diet was implemented. This diet modification resulted in a good clinical response. Our case report reveals patients with the same genetic mutations having distinctive clinical manifestations.

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Variety of symptoms of GLUT1 deficiency syndrome in three-generation family

Cited by 10 publications

References 25 publications

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies

Why should a neuropaediatrician always measure head circumference - a case report of Glucose transporter 1 deficiency syndrome (Glut1-DS)

Diagnostic and Clinical Manifestation Differences of Glucose Transporter Type 1 Deficiency Syndrome in a Family with SLC2A1 Gene Mutation

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