Nonketotic hypertonicity (NKH) is one of the most common endocrine emergencies. It is more common in the elderly patient with noninsulin-dependent diabetes mellitus but may occur in insulin-dependent diabetes as well. Although there are many possible precipitating causes, the final common pathway is usually decreased access to water. Treatment consists of vigorous hydration, electrolyte replacement, and small amounts of insulin. Most deaths from NKH occur in the first 2 days of hospitalization; therefore, a significant decrease in morbidity and mortality can be expected by education of patients and their caregivers in the prevention of NKH.
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http://dx.doi.org/10.1016/s0025-7125(16)30083-9 | DOI Listing |
Child Neurol Open
February 2019
King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
Glycine transporter 1 encephalopathy (OMIM# 617301; glycine encephalopathy with normal serum glycine, GLYT1 transporter dysfunction, and nonketotic hyperglycinemia) is caused by mutations in the gene. To date, 6 cases have been reported in the literature, characterized as having neonatal onset, respiratory failure that required mechanical ventilation, severe hypotonia at birth that progressed to limb hypertonicity, and startle-like responses provoked by sudden loud noises and tactile stimulation. Additional characteristics included dysmorphic features, musculoskeletal abnormalities, and abnormal antenatal findings.
View Article and Find Full Text PDFAm J Hum Genet
November 2016
The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525433, Israel. Electronic address:
Glycine is a major neurotransmitter that activates inhibitory glycine receptors and is a co-agonist for excitatory glutamatergic N-methyl-D-aspartate (NMDA) receptors. Two transporters, GLYT1 and GLYT2, regulate extracellular glycine concentrations within the CNS. Dysregulation of the extracellular glycine has been associated with hyperekplexia and nonketotic hyperglycinemia.
View Article and Find Full Text PDFWorld J Clin Cases
October 2014
George Liamis, Evangelos Liberopoulos, Fotios Barkas, Moses Elisaf, Department of Internal Medicine, School of Medicine, University of Ioannina, Stavrou Niarchou Avenue, 45110 Ioannina, Greece.
Diabetic patients frequently develop a constellation of electrolyte disorders. These disturbances are particularly common in decompensated diabetics, especially in the context of diabetic ketoacidosis or nonketotic hyperglycemic hyperosmolar syndrome. These patients are markedly potassium-, magnesium- and phosphate-depleted.
View Article and Find Full Text PDFKlin Padiatr
January 2012
Universitätskinderklinik, Pädiatrische Endokrinologie und Diabetologie, Bonn, Germany. joachim.woelfl
Brain Dev
January 2012
Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
Nonketotic hyperglycinemia (NKH), or glycine encephalopathy, is an autosomal recessive disorder caused by a defect in the glycine cleavage enzyme system. In neonatal-onset NKH, patients manifest lethargy, hypotonia, apnea, and intractable epileptic seizures that are not specific to this disease. We experienced a 6-year-old girl with spastic quadriplegia, intractable epilepsy, and mental retardation, all initially regarded as sequelae of neonatal meningitis.
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