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Anesthetic management using desflurane and nitrous oxide in a child with non-ketotic hyperglycinemia: a case report.
JA Clin Rep
December 2024
Department of Anesthesiology, Niigata University Medical and Dental Hospital, 1-754 Asahimachi-Dori, Chuo-Ku, Niigata, 951-8520, Japan.
Background: Non-ketotic hyperglycinemia (NKH) is a rare autosomal recessive disorder caused by defects in the glycine cleavage system, leading to elevated glycine levels in the central nervous system. NKH manifests in various forms, with the neonatal type being the most severe and often associated with high mortality and significant neurological impairment. This case report highlights the successful uses of desflurane and nitrous oxide for anesthetic management in a patient with NKH.
View Article and Find Full Text PDF[Epilepsy and inborn errors of metabolism].
Rev Neurol
September 2024
Hospital Universitario Miguel Servet, Zaragoza, España.
Article Synopsis
- - Epilepsy frequently occurs in metabolic disorders, showing varied severity and treatment response, highlighting the importance of understanding its characteristics in these conditions.
- - A study reviewed cases of epilepsy linked to different metabolic diseases, revealing that two-thirds of molybdenum cofactor deficiency cases had neonatal epileptic encephalopathy, while other conditions displayed diverse patterns of incidence and treatment efficacy.
- - Accurate diagnosis of metabolic epilepsy relies on clinical indicators such as age of onset and treatment resistance; further research is needed for early biomarkers and effective targeted therapies despite the rising utility of genetic testing.
Natural history and outcome of nonketotic hyperglycinemia in China.
Front Neurol
August 2024
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Introduction: Nonketotic hyperglycinemia (NKH) is a rare, life-threatening genetic disorder. The patients usually show heterogeneous and nonspecific symptoms, resulting in diagnosis challenges using conventional approaches. Here, the clinical presentation and genetic features of 20 Chinese patients were examined and reported in order to clarify the natural history and prognosis of NKH in China.
View Article and Find Full Text PDFDeep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.
J Inherit Metab Dis
September 2024
Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Nonketotic hyperglycinemia due to deficient glycine cleavage enzyme activity causes a severe neonatal epileptic encephalopathy. Current therapies based on mitigating glycine excess have only limited impact. An animal model with postnatal phenotyping is needed to explore new therapeutic approaches.
View Article and Find Full Text PDFAAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia.
Mol Genet Metab
July 2024
Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London, UK. Electronic address:
Non-Ketotic Hyperglycinemia (NKH) is a rare inborn error of metabolism caused by impaired function of the glycine cleavage system (GCS) and characterised by accumulation of glycine in body fluids and tissues. NKH is an autosomal recessive condition and the majority of affected individuals carry mutations in GLDC (glycine decarboxylase). Current treatments for NKH have limited effect and are not curative.
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