ArticleOrphanet journal of rare diseases2020
Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria.
Article in Orphanet journal of rare diseases, 2020. 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.
- Irritable Bowel Disease: Think Malonic and Methylmalonic Aciduria (CMAMMA)!JIMD reports · 2026Article
- A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA).JIMD reports · 2025Article
- Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report.Journal of Korean medical science · 2023Article
- Knockout mouse models as a resource for the study of rare diseases.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Article
- Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.International journal of molecular sciences · 2021Article
- Altered Metabolic Flexibility in Inherited Metabolic Diseases of Mitochondrial Fatty Acid Metabolism.International journal of molecular sciences · 2021Review
- Population-scale single-cell RNA-seq profiling across dopaminergic neuron differentiation.Nature genetics · 2021Article
- Combined Malonic and Methylmalonic Aciduria Due toFrontiers in pediatrics · 2021Article
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1 author.
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Abstract
Combined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism which has been proposed being a benign condition. However, older patients may present with neurological manifestations such as seizures, memory problems, psychiatric problems and/ or cognitive decline. In fibroblasts from CMAMMA patients we have recently demonstrated a dysregulation of energy metabolism with increased dependency on β-oxidation for energy production. Because of the inability of the brain to rely efficiently on this pathway to retrieve the required energy to a great extent, we hypothesize an alternative disease-causing mechanism that does not only include the accumulation of the metabolites malonic and methylmalonic acids. Here, we suggest a novel hypothesis on the possible pathophysiological mechanism responsible for the development of neurological symptoms in the long-run.
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