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Methylmalonyl acidemia: from mitochondrial metabolism to defective mitophagy and disease
Methylmalonic acidemia (MMA) is an autosomal recessive inborn error of metabolism due to the deficiency of mitochondrial MMUT (methylmalonyl-CoA mutase) – an enzyme that mediates the cellular breakdown of certain amino acids and lipids. The loss of MMUT leads to the accumulation of toxic organic aci...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Taylor & Francis
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7469617/ https://www.ncbi.nlm.nih.gov/pubmed/32316822 http://dx.doi.org/10.1080/15548627.2020.1753927 |