ArticleJournal of human genetics2005
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
Article in Journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 25 citations in OpenAlex.
- Anesthetic management using desflurane and nitrous oxide in a child with non-ketotic hyperglycinemia: a case report.JA clinical reports · 2024Article
- Novel homozygousMolecular genetics and metabolism reports · 2023Article
- Homozygous Novel Variants in the Glycine Decarboxylase Gene Associated with Nonketotic Hyperglycinemia in a Distinct Population.Journal of pediatric genetics · 2023Article
- The effect of hyperglycinemic treatment in captive-bred Vervet monkeys (Chlorocebus aethiops).Metabolic brain disease · 2019Article
- 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
- Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice.Nature communications · 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
- Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.American journal of medical genetics. Part C, Seminars in medical genetics · 2012Article
- Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.Journal of medical genetics · 2007Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycine encephalopathy (GE) (non-ketotic hyperglycinemia) is an autosomal recessive neurometabolic disease caused by defective activity of the glycine cleavage system. Clinically, patients present usually in the neonatal period with hypotonia, encephalopathy, hiccups and breath arrests with or without overt seizures. GE is considered rare, but its incidence is relatively high in several geographical areas around the world. We report a novel mutation causing GE in six extended Arab families, all from a small suburban village (population 5,000). A methionine to threonine change in the initiation codon of the glycine decarboxylase gene led to markedly reduced glycine decarboxylase mRNA levels and abolished glycine cleavage system activity.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.