ReviewJournal of inherited metabolic disease2011
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Review in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 127 papers, 6 of them syntheses that pooled it.
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Who cites it
127 citing papers in PubMed, 6 syntheses or guidelines pooled it, 321 citations in OpenAlex.
- Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.Journal of inherited metabolic disease · 2025Pooled it
- Cyclic Vomiting Syndrome in Children.Frontiers in neurology · 2020Pooled it
- Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review.Forensic science, medicine, and pathology · 2015Pooled it
- Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.Journal of inherited metabolic disease · 2014Pooled it
- Single amino acid supplementation in aminoacidopathies: a systematic review.Orphanet journal of rare diseases · 2014Pooled it
- Drug treatment of inborn errors of metabolism: a systematic review.Archives of disease in childhood · 2013Pooled it
- Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.Journal of inherited metabolic disease · 2013Trial
- L-carnitine modulates molecular responses associated with inflammation, endoplasmic reticulum stress, and neurotrophic signaling in cerebral cortex of neonatal GcdhMetabolic brain disease · 2026Article
- Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis.Metabolites · 2026Review
- Customized Intraoral Appliances for Self-Inflicted Oral Injuries in Pediatric Neurological Disorders: A Case Series.Cureus · 2026Article
- Urinary Biomarkers in Parkinson's Disease: A Structured Integrative Review of Pathophysiological Pathways.Medical sciences (Basel, Switzerland) · 2026Review
- Magnetic resonance imaging in leukodystrophies: characteristic patterns and diagnostic relevance.Arquivos de neuro-psiquiatria · 2026Review
- Article
- Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1.Scientific reports · 2026Article
- Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies.Journal of clinical medicine · 2025Review
- Deeper Than the Metabolite: A Novel Genetic Mutation in an Indian Child With Glutaric Aciduria Type 1.Cureus · 2025Article
- Article
- Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum.Global medical genetics · 2025Article
- Review
- Outcomes of deep brain stimulation surgery in the management of dystonia in glutaric aciduria type 1.Journal of neurology · 2025Article
67 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 15 institutions in 12 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises precipitated by infectious diseases, immunizations and surgery during a finite period of brain development, or develops insidiously without clinically apparent crises. Glutaric aciduria type I is caused by inherited deficiency of glutaryl-CoA dehydrogenase which is involved in the catabolic pathways of L-lysine, L-hydroxylysine and L-tryptophan. This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. However, initiation of treatment after the onset of symptoms is generally not effective in preventing permanent damage. Secondary dystonia is often difficult to treat, and the efficacy of available drugs cannot be predicted precisely in individual patients. The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline.
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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.