Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series
Glucose transporter type 1 deficiency syndrome is a neurometabolic encephalopathy characterized by movement disorders, intractable seizures, and acquired microcephaly. Two girls and a boy between the ages of 3 and 15 years were included in this study. The main clinical manifestations were seizure, a...
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2021-09-01
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| Series: | Türk Nöroloji Dergisi |
| Subjects: | |
| Online Access: | https://tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-12979&look4= |
| _version_ | 1797906308631887872 |
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| author | Miraç Yıldırım Ömür Babayiğit Fatma Ilgaz Dilek Yalnızoğlu Meral Topçu |
| author_facet | Miraç Yıldırım Ömür Babayiğit Fatma Ilgaz Dilek Yalnızoğlu Meral Topçu |
| author_sort | Miraç Yıldırım |
| collection | DOAJ |
| description | Glucose transporter type 1 deficiency syndrome is a neurometabolic encephalopathy characterized by movement disorders, intractable seizures, and acquired microcephaly. Two girls and a boy between the ages of 3 and 15 years were included in this study. The main clinical manifestations were seizure, ataxia, global developmental delay, and acquired microcephaly. The most common electroencephalographic finding was interictal focal or generalized epileptiform discharges. The cerebrospinal fluid to blood glucose ratio was determined to be low (0.35 and 0.40). Two cases had heterozygous de novo mutations and one had microdeletion of SLC2A1. All cases were treated with a ketogenic diet (KD) and were seizure-free in the sixth month of the diet. KD also improved ataxic gait, language skills, and behavioral disturbances. Inconsistency was demonstrated between electroencephalography findings and seizure semiologies detected in patients with GLUT1DS, and KD was found to be most effective for seizures and less effective for ataxia, language skills, and behavioral disturbances. |
| first_indexed | 2024-04-10T10:18:47Z |
| format | Article |
| id | doaj.art-50712f2788414a648ab6c8ea2e7c25f4 |
| institution | Directory Open Access Journal |
| issn | 1309-2545 |
| language | English |
| last_indexed | 2024-04-10T10:18:47Z |
| publishDate | 2021-09-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Nöroloji Dergisi |
| spelling | doaj.art-50712f2788414a648ab6c8ea2e7c25f42023-02-15T16:21:43ZengGalenos YayineviTürk Nöroloji Dergisi1309-25452021-09-0127334334610.4274/tnd.2021.12979Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case SeriesMiraç Yıldırım0https://orcid.org/0000-0002-0215-1043Ömür Babayiğit1https://orcid.org/0000-0001-6447-035XFatma Ilgaz2https://orcid.org/0000-0002-6518-0255Dilek Yalnızoğlu3https://orcid.org/0000-0001-9294-4305Meral Topçu4https://orcid.org/0000-0003-0484-8888Ankara University Faculty of Medicine, Department of Pediatric Neurology, Ankara, TurkeyHacettepe University Faculty of Medicine, Department of Pediatric Neurology, Ankara, TurkeyHacettepe University Faculty of Health Sciences, Department of Nutrition and Dietetics, Ankara, TurkeyHacettepe University Faculty of Medicine, Department of Pediatric Neurology, Ankara, TurkeyHacettepe University Faculty of Medicine, Department of Pediatric Neurology, Ankara, TurkeyGlucose transporter type 1 deficiency syndrome is a neurometabolic encephalopathy characterized by movement disorders, intractable seizures, and acquired microcephaly. Two girls and a boy between the ages of 3 and 15 years were included in this study. The main clinical manifestations were seizure, ataxia, global developmental delay, and acquired microcephaly. The most common electroencephalographic finding was interictal focal or generalized epileptiform discharges. The cerebrospinal fluid to blood glucose ratio was determined to be low (0.35 and 0.40). Two cases had heterozygous de novo mutations and one had microdeletion of SLC2A1. All cases were treated with a ketogenic diet (KD) and were seizure-free in the sixth month of the diet. KD also improved ataxic gait, language skills, and behavioral disturbances. Inconsistency was demonstrated between electroencephalography findings and seizure semiologies detected in patients with GLUT1DS, and KD was found to be most effective for seizures and less effective for ataxia, language skills, and behavioral disturbances.https://tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-12979&look4=glucose transporter type 1 deficiency syndromeataxiaslc2a1ketogenic diet |
| spellingShingle | Miraç Yıldırım Ömür Babayiğit Fatma Ilgaz Dilek Yalnızoğlu Meral Topçu Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series Türk Nöroloji Dergisi glucose transporter type 1 deficiency syndrome ataxia slc2a1 ketogenic diet |
| title | Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series |
| title_full | Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series |
| title_fullStr | Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series |
| title_full_unstemmed | Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series |
| title_short | Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series |
| title_sort | glucose transporter type 1 deficiency syndrome a single center case series |
| topic | glucose transporter type 1 deficiency syndrome ataxia slc2a1 ketogenic diet |
| url | https://tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-12979&look4= |
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