T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake

Brain & Development
Tatsuya FujiiD C De Vivo

Abstract

Glucose transporter type 1 (Glut1) is expressed in vascular endothelial cells comprising blood-brain barrier. Glut1 deficiency syndrome is characterized by low cerebrospinal fluid (CSF) concentration of glucose with normoglycemia, infantile seizure, acquired microcephaly, developmental delay and ataxia. As Glut1 is also expressed in erythrocytes, the diagnosis is confirmed by a decreased uptake of 3-O-methylglucose (3-OMG) into erythrocytes. However, patients with T295M mutation in the Glut1 gene show normal 3-OMG uptake. An in vitro study has proved that the T295M affects efflux rather than influx of glucose, explaining the discrepancy. However, the normal 3-OMG uptake in erythrocytes still indicates a possibility that the phenotype associated with this particular mutation may be milder. We compared the phenotype of three T295M-associated patients with that of other Glut1-deficient patients. Two patients are from our clinic and one is a patient reported elsewhere. The phenotype and biochemical data of patients with mutations other than T295M were obtained from a review and our previous report. Despite the normal 3-OMG uptake into erythrocytes, all patients with T295M showed decreased glucose levels in CSF (33, 31 and 38mg/dl, ...Continue Reading

References

Aug 1, 1997·Biochemical Society Transactions·M MuecklerM Sato
May 14, 1999·Journal of Clinical Laboratory Analysis·J KlepperD C De Vivo
Sep 12, 2000·Human Mutation·D WangD C De Vivo
Oct 18, 2001·Annals of Neurology·K BrockmannD C De Vivo
Dec 29, 2004·Annals of Neurology·Dong WangDarryl C De Vivo
Sep 9, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·Jennifer R L FriedmanMarvin R Natowicz
Sep 5, 2006·Brain & Development·Tatsuya FujiiMasatoshi Ito
Aug 28, 2007·Developmental Medicine and Child Neurology·Joerg Klepper, Baerbel Leiendecker

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Citations

Oct 21, 2011·Journal of Human Genetics·Natsuko HashimotoKeiichi Ozono
Mar 9, 2011·Epilepsy Research·Joerg Klepper
Jun 9, 2011·Developmental Medicine and Child Neurology·Geetha AnandTony McShane
Jul 21, 2015·European Journal of Medical Genetics·Marie HullyNadia Bahi-Buisson
Dec 10, 2014·Brain & Development·Yasushi ItoHirokazu Oguni
Dec 23, 2011·Annals of Neurology·Hong YangDarryl C De Vivo

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