ArticleJIMD reports2022
Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.
Article in JIMD reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 16 citations in OpenAlex.
- Untargeted LC-HRMS of Dried Blood Spots Reveals Metabolic Alterations and Candidate Biomarkers in Glutaric Aciduria Type-1.Metabolites · 2026Article
- Incidental maternal glutaric aciduria type I detection through newborn screening: A case report.Molecular genetics and metabolism reports · 2026Article
- Lipoyl deglutarylation by ABHD11 regulates mitochondrial and T cell metabolism.Nature chemical biology · 2025Article
- Odd-Chain Dicarboxylic Acid Feeding Produces a Glutaric Aciduria Type 1-Like Metabolic Signature in Mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Outcomes of deep brain stimulation surgery in the management of dystonia in glutaric aciduria type 1.Journal of neurology · 2025Article
- Article
- Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.Molecular genetics and metabolism reports · 2023Article
- Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.International journal of molecular sciences · 2023Article
- Review
- Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.JIMD reports · 2022Article
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
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Abstract
Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder that can lead to encephalopathic crises and severe dystonic movement disorders. Adherence to strict dietary restriction, in particular a diet low in lysine, carnitine supplementation and emergency treatment in pre-symptomatic patients diagnosed by high-risk screen (HRS) or newborn screen (NBS) leads to a favourable outcome. We present biochemical and clinical characteristics and long-term outcome data of 34 Irish patients with GA1 aged 1-40 years. Sixteen patients were diagnosed clinically, and 17 patients by HRS, prior to introduction of NBS for GA1 in the Republic of Ireland in 2018. One patient was diagnosed by NBS. Clinical diagnosis was at a median of 1 year (range 1 month to 8 years) and by HRS was at a median of 4 days (range 3 days to 11 years). 14/18 (77.8%) diagnosed by HRS or NBS had neither clinical manifestations nor radiological features of GA1, or had radiological features only, compared to 0/16 (0%) diagnosed clinically (
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