ArticleNeurogenetics2015
Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules.
Article in Neurogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Brain morphometry and cognition in late-onset glutaric aciduria type 1: scoping review and novel insights from a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Acute myeloneuropathy due to Glutaric aciduria-1: Expanding the phenotypic spectrum.Global medical genetics · 2025Article
- Phenotypic and Genotypic Characteristics of Adult-Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review.Brain and behavior · 2025Review
- Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening.Turkish archives of pediatrics · 2023Article
- Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients.JIMD reports · 2022Article
- Glutaric Aciduria Type 1: A Case Report and Review of Literature.Journal of pediatric intensive care · 2021Article
- Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.Frontiers in genetics · 2021Article
- Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey.Nutrients · 2020Article
- Organic acidurias in adults: late complications and management.Journal of inherited metabolic disease · 2018Review
- Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.JIMD reports · 2018Article
- Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.Orphanet journal of rare diseases · 2017Article
- Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Journal of inherited metabolic disease · 2017Review
- [Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Review
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 55-year-old female presented with a 6-year history of paresthesias, incontinence, spasticity, and gait abnormalities. Neuroimaging revealed white matter abnormalities associated with subependymal nodules. Biochemical evaluation noted increased serum C5-DC glutarylcarnitines and urine glutaric and 3-hydroxyglutaric acids. Evaluation of the glutaryl-CoA dehydrogenase (GCDH) gene revealed compound heterozygosity consisting of a novel variant (c.1219C>G; p.Leu407Val) and pathogenic mutation (c.848delT; p.L283fs). Together, these results were consistent with a diagnosis of adult-onset type I glutaric aciduria.
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