ReviewJournal of inherited metabolic disease2004
Neonatal screening for glutaryl-CoA dehydrogenase deficiency.
Review in Journal of inherited metabolic disease, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
53 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- 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
- L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (GcdhJournal of inherited metabolic disease · 2026Article
- Glutaric acidemia type 1 in a non-newborn-screened cohort: clinical, biochemical, and molecular features and neurologic outcomes.Italian journal of pediatrics · 2026Article
- Untargeted LC-HRMS of Dried Blood Spots Reveals Metabolic Alterations and Candidate Biomarkers in Glutaric Aciduria Type-1.Metabolites · 2026Article
- Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.Orphanet journal of rare diseases · 2025Article
- Compilation of Genotype and Phenotype Data inGenes · 2023Article
- Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.International journal of molecular sciences · 2023Article
- Review
- 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
- Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a PatientIranian biomedical journal · 2020Article
- Approach to Patients with Neurometabolic Diseases Who Show Characteristic Signs and Symptoms.Iranian journal of child neurology · 2020Review
- Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches.Frontiers in genetics · 2020Article
- Characterization of novelMolecular genetics and metabolism reports · 2019Article
- Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?Indian journal of pediatrics · 2019Article
- Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.Metabolic brain disease · 2019Article
- Neurological manifestations of organic acidurias.Nature reviews. Neurology · 2019Review
- 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
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Acute encephalopathic crisis in glutaryl-CoA dehydrogenase deficiency results in an unfavourable disease course and poor outcome, dominated by dystonia, feeding problems, seizures and secondary complications, and quite often leading to early death. The prerequisite for the prevention of irreversible brain damage in this disease is the detection of affected patients and initiation of treatment before the manifestation of such crisis. Apart from macrocephaly there are no signs or symptoms characteristic for this disease in presymptomatic children and, thus, they are usually missed. In some countries, implementation of extended neonatal screening programmes using electrospray ionization tandem mass spectrometry (ESI-MS/MS) allows detection of affected newborns and start of therapy before onset of neurological complications. This article summarizes recent strategies, pitfalls and shortcomings of a mass screening for glutaryl-CoA dehydrogenase deficiency using ESI-MS/MS. Furthermore, an alternative strategy, namely DNA-based neonatal screening for the Oji-Cree variant of this disease, is demonstrated. An optimization of diagnostic as well as therapeutic procedures must be achieved before GCDH deficiency unequivocally fulfills the criteria of a reliable and successful newborn screening programme.
Indexed as
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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.