Experience of using ketogenic diet in a patient with glucose transporter 1 deficiency syndrome (a case report)

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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SOMATOSENSORY EVOKED POTENTIAL IN GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME (GLUT1-DS) BEFORE AND DURING KETOGENIC DIET

Neuropediatrics ◽

10.1055/s-2006-945732 ◽

2006 ◽

Vol 37 (S 1) ◽

Author(s):

K Imai ◽

T Okinaga ◽

S Oba ◽

S Nabatame ◽

N Kamio ◽

...

Keyword(s):

Ketogenic Diet ◽

Evoked Potential ◽

Glucose Transporter ◽

Deficiency Syndrome ◽

Somatosensory Evoked Potential ◽

Glucose Transporter 1

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The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome

Neuropediatrics ◽

10.1055/s-0035-1558435 ◽

2015 ◽

Vol 46 (05) ◽

pp. 313-320 ◽

Cited By ~ 11

Author(s):

Hakan Gumus ◽

Fatih Kardas ◽

Mehmet Canpolat ◽

Ahmet Çağlayan ◽

Sefer Kumandas ◽

...

Keyword(s):

Ketogenic Diet ◽

Cognitive Functions ◽

Neurological Disorders ◽

Glucose Transporter ◽

Deficiency Syndrome ◽

Glucose Transporter 1

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

Vojnosanitetski pregled ◽

10.2298/vsp170406120i ◽

2019 ◽

Vol 76 (5) ◽

pp. 543-546 ◽

Cited By ~ 1

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.

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