Title |
Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic
|
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Published in |
The Canadian Journal of Neurological Sciences, November 2017
|
DOI | 10.1017/cjn.2017.246 |
Pubmed ID | |
Authors |
Stacy Hewson, Ledia Brunga, Matilde Fernandez Ojeda, Elizabeth Imhof, Jaina Patel, Maria Zak, Elizabeth J. Donner, Jeff Kobayashi, Gajja S. Salomons, Saadet Mercimek-Andrews |
Abstract |
Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of them had GLUT1 deficiency. All patients seen in the same clinic within the same period were reviewed retrospectively. A total of 18 of these 85 patients had a genetic diagnosis, including GLUT1 deficiency, pathogenic copy number variants, congenital disorder of glycosylation, neuronal ceroid lipofuscinosis type II, mitochondrial disorders, tuberous sclerosis, lissencephaly, and SCN1A-, SCN8A-, and STXBP1-associated epileptic encephalopathies. The prevalence of genetic diagnoses was 21% and prevalence of GLUT1 deficiency was 2.4% in our retrospective cohort study. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 37 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 7 | 19% |
Other | 7 | 19% |
Student > Master | 4 | 11% |
Researcher | 3 | 8% |
Professor > Associate Professor | 2 | 5% |
Other | 4 | 11% |
Unknown | 10 | 27% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 10 | 27% |
Neuroscience | 5 | 14% |
Nursing and Health Professions | 4 | 11% |
Unspecified | 1 | 3% |
Agricultural and Biological Sciences | 1 | 3% |
Other | 3 | 8% |
Unknown | 13 | 35% |