Title |
Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet
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Published in |
Indian Journal of Pediatrics, April 2013
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DOI | 10.1007/s12098-013-1044-5 |
Pubmed ID | |
Authors |
K. N. Vykuntaraju, Srikanth Bhat, K. S. Sanjay, M. Govindaraju |
Abstract |
Glucose transporter type 1 (GLUT-1) deficiency is a rare cause of preventable intellectual disability. Intellectual disability is due to refractory seizures in infancy and reduced supply of glucose to the brain. The authors report a third born male child of consanguineous parentage who presented with infantile spasms. Initially, he had refractory convulsions of focal, generalised, and myoclonic jerks, not responding to multiple anticonvulsants. He also had choreoathetoid movements. On examination he had microcephaly. MRI of brain was normal and EEG showing diffuse slowing. CSF glucose was low compared to blood glucose, with normal lactate and without any cells, hence diagnosed as Glucose transporter-1 deficiency and started on ketogenic diet. With ketogenic diet, child was seizure free, anticonvulsants decreased to 2 from 5, and improvements in development were noted. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
India | 1 | 3% |
Unknown | 37 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 8 | 21% |
Student > Bachelor | 7 | 18% |
Student > Master | 6 | 16% |
Student > Ph. D. Student | 2 | 5% |
Other | 2 | 5% |
Other | 4 | 11% |
Unknown | 9 | 24% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 13 | 34% |
Nursing and Health Professions | 7 | 18% |
Neuroscience | 4 | 11% |
Biochemistry, Genetics and Molecular Biology | 2 | 5% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 3% |
Other | 1 | 3% |
Unknown | 10 | 26% |