ESPE2015 Poster Category 3 Puberty (39 abstracts)
A Novel GLUT1 Mutation in a Patient with Apparently Normal Cerebrospinal Fluid Glucose Level
Ala Üstyol , Mehmet Ali Duman , Halil Ugur Hatipoglu , Murat Elevli & Hatice Nilgün Selçuk Duru
Clinic of Pediatric Endocrinology, Haseki Education and Research Hospital, Istanbul, Turkey
Background: Glucose is the main energy source for the brain’s cells. Glucose transporter 1 (GLUT1), encoded by the SLC2A1 gene, is a membrane protein that plays an essential role in the transport of glucose across the blood-brain barrier. A mutation in GLUT1, so-called GLUT1 deficiency syndrome (GLUT1 DS; OMIM #606777), results in low levels of glucose in the cerebrospinal fluid despite normoglycaemia. GLUT1 deficiency causes a series of symptoms that may differ considerably from one patient to another.
Case presentation: We describe a 17-year-old boy with GLUT1 DS, who was found to have a novel mutation, c.1167C>A (p.Phe389Leu), as the cause of infantile-onset myoclonic seizures. Both serum and cerebrospinal fluid (CSF) glucose concentrations were normal (blood glucose, 93 mg/dl; CSF glucose, 47 mg/dl; and CSF to blood glucose ratio, 0.50).
Conclusion: Our patient helps to clarify the phenotype of GLUT1 deficiency more clearly and reveals a new pathogenic mutation.
Article tools
My recent searches
My recently viewed abstracts
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more