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Fatal multiple mitochondrial dysfunctions syndrome
- ... dehydrogenase, or alpha-ketoglutarate dehydrogenase leads to potentially fatal lactic acidosis, encephalopathy, and other signs and symptoms of multiple mitochondrial dysfunctions syndrome. In some affected individuals, impairment of the glycine ...
- ... dehydrogenase, or alpha-ketoglutarate dehydrogenase leads to potentially fatal lactic acidosis, encephalopathy, and other signs and symptoms of multiple mitochondrial dysfunctions syndrome. In some affected individuals, impairment of the glycine ...
- ... dehydrogenase, or alpha-ketoglutarate dehydrogenase leads to potentially fatal lactic acidosis, encephalopathy, and other signs and symptoms of multiple mitochondrial dysfunctions syndrome. In some affected individuals, impairment of the glycine ...
- ... found to cause FBXL4-related encephalomyopathic mtDNA depletion syndrome. This condition affects multiple body systems and is often fatal in early childhood. It is primarily associated with brain dysfunction combined with muscle weakness (encephalomyopathy).Many of the ...
- ... in Kearns-Sayre syndrome (described above), deletion of mitochondrial DNA causes Pearson syndrome. This severe condition affects the development of blood cells and the function of the pancreas and other organs; it is often fatal in infancy or early childhood. The size and ...
- ... Gottlieb E. Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer. Oncogene. 2006 Aug 7;25(34): ...
- ... problems. More severely affected people have problems in multiple body systems, often including severe brain dysfunction (encephalomyopathy). Approximately one-quarter of individuals with cytochrome ...