TY - JOUR
T1 - Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic
AU - Hewson, Stacy
AU - Brunga, Ledia
AU - Ojeda, Matilde Fernandez
AU - Imhof, Elizabeth
AU - Patel, Jaina
AU - Zak, Maria
AU - Donner, Elizabeth J.
AU - Kobayashi, Jeff
AU - Salomons, Gajja S.
AU - Mercimek-Andrews, Saadet
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85040772288&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/29144225
U2 - https://doi.org/10.1017/cjn.2017.246
DO - https://doi.org/10.1017/cjn.2017.246
M3 - Article
C2 - 29144225
SN - 0317-1671
VL - 45
SP - 93
EP - 96
JO - Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
JF - Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
IS - 1
ER -