ArticleJournal of inherited metabolic disease2014
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.
Article in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review.Forensic science, medicine, and pathology · 2015Pooled it
- L-carnitine modulates molecular responses associated with inflammation, endoplasmic reticulum stress, and neurotrophic signaling in cerebral cortex of neonatal GcdhMetabolic brain disease · 2026Article
- Glutamatergic Neurotransmission Disruption as a Pathomechanism of Brain Damage in Disorders of Amino Acid and Organic Acid Metabolism: Insights from Animal and Cellular Studies.Neurochemical research · 2026Review
- Outcomes of deep brain stimulation surgery in the management of dystonia in glutaric aciduria type 1.Journal of neurology · 2025Article
- Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model.Molecular therapy. Methods & clinical development · 2024Article
- Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I.Neurotoxicity research · 2024Review
- Glutaric Aciduria Type 1: Comparison between Diffusional Kurtosis Imaging and Conventional MR Imaging.AJNR. American journal of neuroradiology · 2023Article
- Neuroimaging findings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and organic acidopathies.Japanese journal of radiology · 2023Review
- Diagnostic approach in adult-onset neurometabolic diseases.Journal of neurology, neurosurgery, and psychiatry · 2022Review
- Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma.JIMD reports · 2021Article
- Neurological manifestations of organic acidurias.Nature reviews. Neurology · 2019Review
- Induction of Neuroinflammatory Response and Histopathological Alterations Caused by Quinolinic Acid Administration in the Striatum of Glutaryl-CoA Dehydrogenase Deficient Mice.Neurotoxicity research · 2018Article
- Glutaric Acidemia Type 1: A Case of Infantile Stroke.JIMD reports · 2018Article
- Ultrasonographic Characteristics of Cortical Sulcus Development in the Human Fetus between 18 and 41 Weeks of Gestation.Chinese medical journal · 2017Article
- Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Journal of inherited metabolic disease · 2017Review
- Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.Journal of inherited metabolic disease · 2016Article
- Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.European journal of pediatrics · 2016Article
- Impact of age at onset and newborn screening on outcome in organic acidurias.Journal of inherited metabolic disease · 2016Article
- A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.Orphanet journal of rare diseases · 2015Article
- Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.Saudi medical journal · 2015Article
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGlutaric aciduria type I (GA-I) is a cerebral organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase and is characterized biochemically by an accumulation of putatively neurotoxic dicarboxylic metabolites. The majority of untreated patients develops a complex movement disorder with predominant dystonia during age 3-36 months. Magnetic resonance imaging (MRI) studies have demonstrated striatal and extrastriatal abnormalities. AIMS/
methodsThe major aim of this study was to elucidate the complex neuroradiological pattern of patients with GA-I and to associate the MRI findings with the severity of predominant neurological symptoms. In 180 patients, detailed information about the neurological presentation and brain region-specific MRI abnormalities were obtained via a standardized questionnaire.
resultsPatients with a movement disorder had more often MRI abnormalities in putamen, caudate, cortex, ventricles and external CSF spaces than patients without or with minor neurological symptoms. Putaminal MRI changes and strongly dilated ventricles were identified as the most reliable predictors of a movement disorder. In contrast, abnormalities in globus pallidus were not clearly associated with a movement disorder. Caudate and putamen as well as cortex, ventricles and external CSF spaces clearly collocalized on a two-dimensional map demonstrating statistical similarity and suggesting the same underlying pathomechanism.
conclusionsThis study demonstrates that complex statistical methods are useful to decipher the age-dependent and region-specific MRI patterns of rare neurometabolic diseases and that these methods are helpful to elucidate the clinical relevance of specific MRI findings.
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