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Results 1 - 9 of 9 for Fatal multiple mitochondrial dysfunctions syndrome
  1. 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 ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  2. BOLA3 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/bola3 - Genetics
  3. NFU1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  4. Mitochondrial Diseases (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/mitochondrialdiseases.html - Health Topics
  5. FBXL4 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/fbxl4 - Genetics
  6. Overview of Barth Syndrome (Barth Syndrome Foundation)  
    Mitochondrial Diseases/Specifics ... Mitochondrial Diseases ... Barth Syndrome Foundation
    https://barthsyndrome.org/barthsyndrome/whatisbarthsyndrome.html - External Health Links
  7. Mitochondrial DNA 
    ... 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 ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  8. FH gene 
    ... Gottlieb E. Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer. Oncogene. 2006 Aug 7;25(34): ...
    https://medlineplus.gov/genetics/gene/fh - Genetics
  9. Cytochrome c oxidase deficiency 
    ... problems. More severely affected people have problems in multiple body systems, often including severe brain dysfunction (encephalomyopathy). Approximately one-quarter of individuals with cytochrome ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics