ArticleFrontiers in genetics2021
Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 21 citations in OpenAlex.
- 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
- Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.Pediatric research · 2025Article
- Phenotypic and Genotypic Characteristics of Adult-Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review.Brain and behavior · 2025Review
- Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.World journal of pediatrics : WJP · 2024Article
- Compilation of Genotype and Phenotype Data inGenes · 2023Article
- Late-onset cblC defect: clinical, biochemical and molecular analysis.Orphanet journal of rare diseases · 2023Article
- Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.Molecular genetics and metabolism reports · 2023Article
- Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.Orphanet journal of rare diseases · 2023Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo characterize the phenotypic and genotypic variations associated with Glutaric aciduria type 1 (GA1) in Chinese patients.
methodsWe analyzed the clinical, neuroradiological, biochemical, and genetic information from 101 GA1 patients in mainland China.
results20 patients were diagnosed by newborn screening and the remaining 81 cases were identified following clinical intervention. Macrocephaly was the most common presentation, followed by movement disorders and seizures. A total of 59 patients were evaluated by brain MRI and 58 patients presented with abnormalities, with widening of the sylvian fissures being the most common symptom. The concentration of glutarylcarnitine in the blood, glutarylcarnitine/capryloylcarnitine ratio, and urine levels of glutaric acid were increased in GA1 patients and were shown to decrease following intervention. A total of 88 patient samples were available for genotyping and 74 variants within the
conclusionOur findings expand the spectrum of phenotypes and genotypes for GA1 in Chinese populations and suggest that an expanded newborn screening program using tandem mass spectrometry may facilitate the early diagnosis and treatment of this disease, improving clinical outcomes for patients in China.
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