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[De Vivo disease. GLUT-1 deficiency syndrome: a case report]
Insights
Glucose transporter type 1 (GLUT-1) deficiency syndrome causes neurological issues due to impaired brain glucose transport. A ketogenic diet successfully managed epilepsy in an infant with this rare genetic disorder.
Area of Science:
- Neurology
- Genetics
- Metabolic Disorders
Background:
- Glucose transporter type 1 (GLUT-1) deficiency syndrome is a rare inherited neurological disorder.
- It results from impaired glucose transport across the blood-brain barrier, affecting brain energy metabolism.
Observation:
- A case study of an infant presenting with myoclonic seizures preceding meals and developmental delay.
- The infant exhibited neurological symptoms consistent with GLUT-1 deficiency syndrome.
Findings:
- Diagnosis was confirmed biochemically via DNA analysis, preceding the identification of hypoglycorrhachia with normal plasma glucose.
- A ketogenic diet was initiated as a treatment intervention.
Implications:
- The ketogenic diet demonstrated significant success in controlling epilepsy in the affected infant.
- This highlights the therapeutic potential of ketogenic diets for managing GLUT-1 deficiency syndrome-related seizures.
Abstract:
GLUT-1 deficiency syndrome is a rare genetic disease where the specific glucose transporter through the brain barrier is deficient. GLUT-1 deficiency causes an array of symptoms that may vary considerably from one patient to another. Signs and symptoms may include seizures, movement disorders, speech and language disorders, and developmental delays. We report a case of an infant who presented myoclonic events often occurring prior to meals, associated with developmental delay. The diagnosis was made before the discovery of hypoglycorrhachia associated with normal plasma glucose, proven biochemically by DNA analysis. Treatment with a ketogenic diet proved to be successful in controlling the epilepsy.
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