ArticleFrontiers in neurology2022
Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment.
Article in Frontiers in neurology, 2022. 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, 12 citations in OpenAlex.
- [Occurrence status and treatment strategies of abnormal growth and development in children with methylmalonic acidemia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Review
- Metabolic toxicity and neurological dysfunction in methylmalonic acidemia: from mechanisms to therapeutics.Molecular medicine (Cambridge, Mass.) · 2025Review
- Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.Pediatric research · 2025Article
- Association analysis between circulating methylmalonic acid and cognitive performance: a population-based cross-sectional study.Frontiers in neurology · 2025Article
- Hypertension may lead to cognitive dysfunction in older adults via methylmalonic acid: evidence from NHANES 2011-2014 population.BMC geriatrics · 2024Article
- Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran.BMC pediatrics · 2024Article
- Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age.Scientific reports · 2024Article
- Serum methylmalonic acid concentrations at breast cancer diagnosis significantly correlate with clinical frailty.GeroScience · 2024Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: The cblC type methylmalonic acidemia is the most common methylmalonic acidemia (MMA) in China. The biochemical characteristics of this disease include elevated methylmalonic acid and homocysteine (HCY), increased propionylcarnitine (C3), decreased free carnitine (C0). In this study, we aimed to clarify the roles of these biomarkers in cblC-MMA induced cognitive impairment and evaluate the capacity of methylmalonic acid in different fluids or exosomes to distinguish cblC-MMA induced cognitive impairment. Methods: 15 non-inherited hyperhomocysteinemia (HHcy) patients, 42 cblC-MMA patients and 57 age- and sex-matched healthy children were recruited in this study. The levels of HCY were detected by an automatic immune analyzer. The levels of acylcarnitines and methylmalonic acid were detected by tandem mass spectrometer. Results: The main findings were all biomarkers as HCY, acylcarnitines and methylmalonic acid had capacities for distinguishing patients with cblC-MMA induced cognitive impairment from healthy children. The methylmalonic acid in different fluids or exosomes had good performances for distinguishing patients with cblC-MMA induced cognitive impairment from HHcy patients. The methylmalonic acid in serum exosomes and neuronal-derived exosomes were able to distinguishing cblC-MMA patients with cognitive impairment from patients without cognitive impairment. The methylmalonic acid in neuronal-derived exosomes might be helpful to evaluate the severity of cblC-MMA induced cognitive impairment. Discussion: Methylmalonic acid levels in serum exosomes, especially in serum neuronal-derived exosomes, serve as potential biomarkers for distinguishing cblC-MMA induced cognitive impairment.
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