ArticleJournal of medical genetics2007
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 65 citations in OpenAlex.
- Glycine and a glycine dehydrogenase (GLDC) SNP as citalopram/escitalopram response biomarkers in depression: pharmacometabolomics-informed pharmacogenomics.Clinical pharmacology and therapeutics · 2011Trial
- Severe nonketotic hyperglycinaemia due to a synonymous variant.Molecular genetics and metabolism reports · 2025Article
- Preventing CpG hypermethylation in oocytes safeguards mouse development.Developmental cell · 2025Article
- The precise molecular diagnosis of novelMolecular genetics and metabolism reports · 2025Article
- Evolution of Repetitive Elements, Their Roles in Homeostasis and Human Disease, and Potential Therapeutic Applications.Biomolecules · 2024Review
- Natural history and outcome of nonketotic hyperglycinemia in China.Frontiers in neurology · 2024Article
- Novel homozygousMolecular genetics and metabolism reports · 2023Article
- Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.Metabolic brain disease · 2021Article
- NovelFrontiers in pediatrics · 2021Article
- Glycine Cleavage System H Protein Is Essential for Embryonic Viability, Implying Additional Function Beyond the Glycine Cleavage System.Frontiers in genetics · 2021Article
- A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.BMC medical genetics · 2018Article
- A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.Neurosciences (Riyadh, Saudi Arabia) · 2017Article
- [Clinical and molecular genetic characteristics of nonketotic hyperglycinemia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
- [Clinical and molecular genetic study of nonketotic hyperglycinemia in a Chinese family].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
- R-loopDB: a database for R-loop forming sequences (RLFS) and R-loops.Nucleic acids research · 2017Article
- The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.Annals of neurology · 2015Article
- Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature.Molecular genetics and metabolism reports · 2015Article
- Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.Journal of human genetics · 2014Article
- Structure of the homodimeric glycine decarboxylase P-protein from Synechocystis sp. PCC 6803 suggests a mechanism for redox regulation.The Journal of biological chemistry · 2013Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNon-ketotic hyperglycinaemia (NKH) is an inborn error of metabolism characterised by accumulation of glycine in body fluids and various neurological symptoms. NKH is caused by deficiency of the glycine cleavage multienzyme system with three specific components encoded by GLDC, AMT and GCSH. Most patients are deficient of the enzymatic activity of glycine decarboxylase, which is encoded by GLDC. Our recent study has suggested that there are a considerable number of GLDC mutations which are not identified by the standard exon-sequencing method.
methodsA screening system for GLDC deletions by multiplex ligation-dependent probe amplification (MLPA) has been developed. Two distinct cohorts of patients with typical NKH were screened by this
methodthe first cohort consisted of 45 families with no identified AMT or GCSH mutations, and the second cohort was comprised of 20 patients from the UK who were not prescreened for AMT mutations.
resultsGLDC deletions were identified in 16 of 90 alleles (18%) in the first cohort and in 9 of 40 alleles (22.5%) in the second cohort. 14 different types of deletions of various lengths were identified, including one allele where all 25 exons were missing. Flanking sequences of interstitial deletions in five patients were determined, and Alu-mediated recombination was identified in three of five patients.
conclusionsGLDC deletions are a significant cause of NKH, and the MLPA analysis is a valuable first-line screening for NKH genetic testing.
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