Journal
JOURNAL OF BIOENERGETICS AND BIOMEMBRANES
Volume 43, Issue 1, Pages 39-46Publisher
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10863-011-9330-2
Keywords
Central nervous system; Methylmalonic acid; Mitochondria; Neurodegeneration; Organic acidemias; Oxidative metabolism
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Funding
- Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq)
- FINEP Rede Instituto Brasileiro de Neurociencia (IBN-Net)
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)
- Fundacao de Amparo a Pesquisa do Estado do Rio Grande do Sul (FAPERGS)
- National Institutes of Health (NIH)
- Institutos Nacionais de Ciencia e Tecnologia (INCT/MCT/CNPq)
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Methylmalonic acidemia is one of the most prevalent inherited metabolic disorders involving neurological deficits. In vitro experiments, animal model studies and tissue analyses from human patients suggest extensive impairment of mitochondrial energy metabolism in this disease. This review summarizes changes in mitochondrial energy metabolism occurring in methylmalonic acidemia, focusing mainly on the effects of accumulated methylmalonic acid, and gives an overview of the results found in different experimental models. Overall, experiments to date suggest that mitochondrial impairment in this disease occurs through a combination of the inhibition of specific enzymes and transporters, limitation in the availability of substrates for mitochondrial metabolic pathways and oxidative damage.
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