ArticleJournal of medical genetics2000
Mutation analysis in glutaric aciduria type I.
Article in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 2 of them syntheses that pooled it.
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Who cites it
41 citing papers in PubMed, 2 syntheses or guidelines pooled it, 132 citations in OpenAlex.
- Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review.Forensic science, medicine, and pathology · 2015Pooled it
- Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).Journal of inherited metabolic disease · 2007Guideline
- Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.Journal of inherited metabolic disease · 2013Trial
- Article
- Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum.Global medical genetics · 2025Article
- Clinical features andMolecular genetics and metabolism reports · 2024Article
- Compilation of Genotype and Phenotype Data inGenes · 2023Article
- Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.International journal of molecular sciences · 2023Article
- The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.Scientific reports · 2021Observational
- A novel mutation in the glutaryl-CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1.Clinical case reports · 2021Article
- Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.Metabolic brain disease · 2021Article
- Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.Neurogenetics · 2020Article
- Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.Metabolic brain disease · 2019Article
- Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.Metabolic brain disease · 2019Article
- Favourable outcome in a child with symptomatic diagnosis of Glutaric aciduria type 1 despite vertical HIV infection and minor head trauma.Metabolic brain disease · 2018Article
- Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.Italian journal of pediatrics · 2018Article
- Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.JIMD reports · 2018Article
- Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.Metabolic brain disease · 2017Article
- Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I.Journal of pediatric genetics · 2017Article
- Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria.Clinical case reports · 2017Article
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Authors and funding
4 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glutaric aciduria type 1 (GA1), resulting from the genetic deficiency of glutaryl-CoA dehydrogenase (GDH), is a relatively common cause of acute metabolic brain damage in infants. Encephalopathic crises may be prevented by carnitine supplementation and diet, but diagnosis can be difficult as some patients do not show the typical excretion of large amounts of glutaric and 3-hydroxyglutaric acids in the urine. We present a rapid and efficient denaturing gradient gel electrophoresis (DGGE) method for the identification of mutations in the glutaryl-CoA dehydrogenase (GCDH) gene that may be used for the molecular diagnosis of GA1 in a routine setting. Using this technique, we identified mutations on both alleles in 48 patients with confirmed GDH deficiency, while no mutations were detected in other patients with clinical suspicion of GA1 but normal enzyme studies. There was a total of 38 different mutations; 27 mutations were found in single patients only, and 21 mutations have not been previously reported. Fourteen mutations involved hypermutable CpG sites. The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin. GCDH gene haplotypes were determined through the analysis of polymorphic markers in all families, and three CpG mutations were associated with different haplotypes, possibly reflecting independent recurrence. The high sensitivity of the DGGE method allows the rapid and cost efficient diagnosis of GA1 in instances where enzyme analyses are not available or feasible, despite the marked heterogeneity of the disease.
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