ArticleJournal of inherited metabolic disease2015
(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.
Article in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 68 citations in OpenAlex.
- 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
- Clinical and neuroradiologic spectrum of glutaric acidemia type 1 in children: insights from a retrospective cohort in Guangdong Province, China.Quantitative imaging in medicine and surgery · 2026Article
- Neurocognitive characterization and academic impact in pediatric patients belonging to the national registry of GA-1.Orphanet journal of rare diseases · 2025Observational
- Phenotypic and Genotypic Characteristics of Adult-Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review.Brain and behavior · 2025Review
- Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.European journal of pediatrics · 2024Article
- Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.International journal of molecular sciences · 2024Article
- Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I.Neurotoxicity research · 2024Review
- [Evaluation and optimization of newborn screening by structured long-term follow-up-using the example of inherited metabolic diseases].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023Review
- Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.Orphanet journal of rare diseases · 2023Article
- Does glutaric aciduria type 1 affect hearing function?Metabolic brain disease · 2022Article
- Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.JIMD reports · 2022Article
- ClinicalNeuroradiology · 2022Review
- The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.Scientific reports · 2021Observational
- 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
- Lipopolysaccharide-Elicited Systemic Inflammation Induces Selective Vulnerability of Cerebral Cortex and Striatum of Developing Glutaryl-CoA Dehydrogenase Deficient (GcdhNeurotoxicity research · 2020Article
- Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement.AJNR. American journal of neuroradiology · 2019Article
- Neurological manifestations of organic acidurias.Nature reviews. Neurology · 2019Review
- Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.Molecular neurobiology · 2019Article
- [Metabolic induced changes of the central nervous system].Der Radiologe · 2018Review
- Organic acidurias in adults: late complications and management.Journal of inherited metabolic disease · 2018Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn glutaric aciduria type 1 (GA1) the neurotoxic metabolites glutaric acid (GA) and 3-hydroxyglutaric acid (3-OH-GA) accumulate within the brain. Due to limited efflux across the blood-brain-barrier biochemical monitoring of intracerebrally accumulating toxic metabolites is as yet not possible.
aimsTo investigate brain metabolic patterns in glutaric aciduria type 1 using (1)H magnetic resonance spectroscopy ((1)H-MRS) with focus on detecting the disease-related neurotoxic metabolites GA and 3-OH-GA. PATIENTS AND
methodsShort echo time (1)H-MRS was performed in 13 treated metabolically stable patients. Twenty-one white matter and 16 basal ganglia spectra from 12 patients (age range 7 months - 22 years) were included. Subgroups based on age, biochemical phenotype and/or associated MRI changes were compared with control spectra.
resultsGA was elevated in white matter of patients. 3-OH-GA was elevated in white matter of older patients with associated signal changes on MRI, which was structurally characterized by decreased creatine and phosphocreatine (tCr) and elevated choline (Cho). Metabolite changes differed with biochemical phenotype and disease duration: Low excretors with up to 30% residual enzyme activity had only mildly, non-significantly elevated GA and mildly subnormal N-acetylaspartate (tNAA). High excretors with complete lack of enzyme activity had significantly increased GA, tNAA was mildly subnormal in younger and decreased in older high excretors.
conclusionsGA and 3-OH-GA are detectable by in vivo (1)H-MRS, which might finally allow biochemical follow-up monitoring of intracerebrally accumulating neurotoxic metabolites in GA1. A high excreting phenotype appears to be a risk factor for cerebral GA accumulation and progressive neuroaxonal compromise despite a similar clinical course in younger high and low excreting patients. This might have consequences for long-term outcome.
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