Patients with nonketotic hyperglycinemia generally have intractable seizures that are poorly responsive to anticonvulsant medication. No effective treatment has been consistently reported. In three patients with nonketotic hyperglycinemia, the oral administration of sodium benzoate in dosages designed to lower the cerebrospinal fluid concentration of glycine was followed by an abrupt change from frequent major seizures before treatment to no seizures, or only occasional minor ones, after treatment. This attenuation of seizures was associated with a decrease in the concentrations of glycine in both plasma and cerebrospinal fluid. There was no evident change in psychomotor development.
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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 PDFThe role of NMDA-receptor type glutamatergic antagonists dextromethorphan or ketamine in the treatment of nonketotic hyperglycinemia: A critical reassessment.
Mol Genet Metab
November 2024
Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO 80045, USA. Electronic address:
The recognition of glycine as an endogenous ligand at the allosteric activation site of the NMDA-type glutamatergic receptor led to the assumption that the excess glycine in nonketotic hyperglycinemia would result in overactivation of these receptors, and of the proposed use of inhibitors such as dextromethorphan or ketamine as a therapeutic agent. Years later it was recognized that these same receptors have an alternative endogenous activator d-serine, which is markedly decreased in nonketotic hyperglycinemia. This may result in underactivation of these NMDA-type glutamatergic receptors, challenging the earlier hypothesis.
View Article and Find Full Text PDFCase report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel variant.
Front Genet
September 2024
Service de Neurologie Pédiatrique, CHU Bordeaux, University Bordeaux, CNRS, INCIA, UMR 5287, NRGen Team, Bordeaux, France.
Article Synopsis
- * A new case of NKH was identified involving a child with a unique genetic variant in the GLRX5 gene that led to significant neurological problems, confirmed through MRI and cerebrospinal fluid analysis.
- * The child, who experienced a rapid decline in health, passed away at four months old, demonstrating that this case was more severe than previously documented instances of GLRX5-related NKH, emphasizing the importance of genetic factors in the disorder's severity and symptoms.
[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.
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