Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood

TY - JOUR

T1 - Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood

AU - Gramer, Gwendolyn

AU - Wolf, Nicole I

AU - Vater, Daniel

AU - Bast, Thomas

AU - Santer, René

AU - Kamsteeg, Erik-Jan

AU - Wevers, Ron A

AU - Ebinger, Friedrich

N1 - Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

PY - 2012/6/1

Y1 - 2012/6/1

N2 - BACKGROUND: Typical cases of glucose transporter-1 deficiency syndrome (GLUT1-DS) present with early-onset epilepsy. We report symptoms, diagnostic results, and effects of therapy in two patients diagnosed with GLUT1-DS at the age of 10 and 15 years, respectively.PATIENTS: Patient 1: After four cerebral seizures in the first 2 years of life the patient was seizure-free but showed a complex movement disorder, expressive speech disorder, and mental retardation. Ratio of cerebrospinal fluid (CSF) to blood glucose was 0.41 (reference range 0.65 ± 0.1), molecular genetic testing confirmed GLUT1 deficiency with the novel pathogenic mutation c.1377dupC (p.Phe460LeufsX3) in the SLC2A1 gene. Following 9 months of ketogenic diet started at the age of 10 years, there was distinct improvement of speech and movement disorder. Patient 2 showed pharmacorefractive epilepsy, mental retardation, and a mild movement disorder. At the age of 15 years, extensive intake of food with high fat content was observed. Ratio of CSF to blood glucose was 0.41 (reference range 0.65 ± 0.1). The pathogenic mutation c.634C>T (p.Arg212Cys) was found in the SLC2A1 gene.CONCLUSION: Self-induced high-fat diet can be a hint toward GLUT1-DS. Ketogenic diet can be beneficial even when started in late childhood, although it may take several months to achieve a positive effect.

AB - BACKGROUND: Typical cases of glucose transporter-1 deficiency syndrome (GLUT1-DS) present with early-onset epilepsy. We report symptoms, diagnostic results, and effects of therapy in two patients diagnosed with GLUT1-DS at the age of 10 and 15 years, respectively.PATIENTS: Patient 1: After four cerebral seizures in the first 2 years of life the patient was seizure-free but showed a complex movement disorder, expressive speech disorder, and mental retardation. Ratio of cerebrospinal fluid (CSF) to blood glucose was 0.41 (reference range 0.65 ± 0.1), molecular genetic testing confirmed GLUT1 deficiency with the novel pathogenic mutation c.1377dupC (p.Phe460LeufsX3) in the SLC2A1 gene. Following 9 months of ketogenic diet started at the age of 10 years, there was distinct improvement of speech and movement disorder. Patient 2 showed pharmacorefractive epilepsy, mental retardation, and a mild movement disorder. At the age of 15 years, extensive intake of food with high fat content was observed. Ratio of CSF to blood glucose was 0.41 (reference range 0.65 ± 0.1). The pathogenic mutation c.634C>T (p.Arg212Cys) was found in the SLC2A1 gene.CONCLUSION: Self-induced high-fat diet can be a hint toward GLUT1-DS. Ketogenic diet can be beneficial even when started in late childhood, although it may take several months to achieve a positive effect.

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Child

KW - Syndrome

KW - Epilepsy/genetics

KW - Glucose Transporter Type 1/deficiency/genetics

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Child

KW - Syndrome

KW - Epilepsy/genetics

KW - Glucose Transporter Type 1/deficiency/genetics

U2 - 10.1055/s-0032-1315433

DO - 10.1055/s-0032-1315433

M3 - SCORING: Journal article

C2 - 22622956

VL - 43

SP - 168

EP - 171

JO - NEUROPEDIATRICS

JF - NEUROPEDIATRICS

SN - 0174-304X

IS - 3

M1 - 3

ER -