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PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
Am J Med Genet A
October 2021
Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Idiopathic ketotic hypoglycemia (IKH) is a diagnosis of exclusion with glycogen storage diseases (GSDs) as a differential diagnosis. GSD IXa presents with ketotic hypoglycemia (KH), hepatomegaly, and growth retardation due to PHKA2 variants. In our multicenter study, 12 children from eight families were diagnosed or suspected of IKH.
View Article and Find Full Text PDFDecreased carbon shunting from glucose toward oxidative metabolism in diet-induced ketotic rat brain.
J Neurochem
February 2015
Department of Biomedical Engineering, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA.
The mechanistic link of ketosis to neuroprotection under certain pathological conditions continues to be explored. We investigated whether chronic ketosis induced by ketogenic diet results in the partitioning of ketone bodies toward oxidative metabolism in brain. We hypothesized that diet-induced ketosis results in increased shunting of ketone bodies toward citric acid cycle and amino acids with decreased carbon shunting from glucose.
View Article and Find Full Text PDFChorea-ballism associated with ketotic hyperglycemia.
Neurol Sci
December 2014
Department of Neurology, Second Xiangya Hospital of Central South University, 139 Renmin Road, Changsha, 410011, Hunan, People's Republic of China.
Chorea-ballism is a rare movement disorder characterized by irregular, poorly patterned, and involuntary movements, which are usually unilateral but may be bilateral or involve the extremities. The most common metabolic cause of transient chorea-ballism is nonketotic or ketotic hyperglycemia (NKHG or KHG, respectively). A meta-analysis and several reviews have identified clinical characteristics of NKHG-associated chorea-ballism; however, the characteristics of KHG-associated chorea-ballism remain unknown.
View Article and Find Full Text PDFConcurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy.
Mol Genet Metab Rep
May 2014
Department of Genetics and Metabolism, Children's National Health Center, Washington, DC, USA.
This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the gene (paternal allele: c.1576_1577insC delT and c.
View Article and Find Full Text PDFPrediction of seizure control in non-ketotic hyperglycemic induced seizures.
BMC Neurol
December 2009
Department of Medicine, Faculty of Medicine, Khon Kaen University, Thailand.
Background: To study the factors predictive for seizure control in non-ketotic hyperglycemic induced seizures (NKHS).
Methods: We studied 21 patients who were clinically diagnosed as NKHS at Khon Kaen University hospital, Thailand. Multiple linear regression analysis was used to identify the factors predictive for seizure control.
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