ArticleEuropean journal of clinical nutrition2019
Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report.
Article in European journal of clinical nutrition, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Precision diagnosis guides ketogenic diet therapy in inherited metabolic epilepsies: Concurrent non-ketotic hyperglycinemia and biotinidase deficiency.European journal of clinical nutrition · 2026Article
- Variants in glycine decarboxylase activate catabolic mechanisms of mitochondrial energy metabolism in the brain.The Journal of biological chemistry · 2026Article
- Ketogenic diet therapy in developmental and epileptic encephalopathies: toward syndrome- and gene-informed precision therapy.Frontiers in pediatrics · 2026Review
- Review
- Use of ketogenic dietary therapy for drug-resistant epilepsy in early infancy.Epilepsia open · 2024Article
- Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.Orphanet journal of rare diseases · 2022Article
- Nonketotic Hyperglycinemia: Insight into Current Therapies.Journal of clinical medicine · 2022Review
- Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.Metabolic brain disease · 2021Article
- The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System.JMIR research protocols · 2021Article
- Article
- Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.PLoS computational biology · 2020Article
- Tinnitus is multicausal and may not only be related to DNA variants.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2019Article
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Authors and funding
4 authors at 2 institutions in 1 country.
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Abstract
Nonketotic hyperglycinemia (NKH) is a devastating inborn error of glycine metabolism caused by deficient activity of the glycine cleavage enzyme. Classically, patients present with lethargy, hypotonia, myoclonic jerks, transient respiratory depression in the first week of life and often progress to death. Surviving infants have profound psychomotor retardation, refractory epilepsy and poor quality of life. Currently, no effective therapeutic avenues exist for severe NKH. Ketogenic diet (KD) has been trialled only in a small group of patients with neonatal NKH and early myoclonic encephalopathy, in whom significant improvements in seizure control were reported. We describe an infant with classical neonatal NKH who presented on the third day of life with hypotonia, poor feeding, respiratory insufficiency resulting in ventilatory support and seizures with burst-suppression pattern on electroencephalogram (EEG). KD initiated at age 6 months for intractable seizures, lead to a dramatic decrease in seizure frequency, EEG improvements, normalisation of plasma glycine levels, reduced spasticity and improved quality of life. KD may be a valuable treatment modality for refractory seizure control in classical NKH.
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