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Results 1 - 10 of 10 for Combined oxidative phosphorylation deficiency 1
  1. Combined oxidative phosphorylation deficiency 1 
    Combined oxidative phosphorylation deficiency 1 is a severe condition that primarily impairs neurological and liver function.Most people with combined oxidative ...
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics
  2. GFM1 gene 
    ... the GFM1 gene have been found to cause combined oxidative phosphorylation deficiency 1. This condition causes severe neurologic and liver dysfunction. ...
    https://medlineplus.gov/genetics/gene/gfm1 - Genetics
  3. 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
  4. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 
    ... not show signs and symptoms of the condition. Combined oxidative phosphorylation deficiency 12 COXPD12 LTBL Genetic Testing Registry: Leukoencephalopathy-thalamus ...
    https://medlineplus.gov/...nd-brainstem-involvement-and-high-lactate - Genetics
  5. What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
    https://www.mda.org/...tochondrial_Disease_Fact_Sheet_March_2020.pdf - External Health Links
  6. ACAD9 deficiency 
    ... A, de Coo IF, Smeets HJ. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Brain. 2011 Jan;134(Pt 1):210-9. doi: 10.1093/brain/awq273. Epub ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  7. SLC25A1 gene 
    ... contributes to the severe signs and symptoms of combined D,L-2-HGA More About This Health ... 1 tricarboxylate carrier protein tricarboxylate transport protein, mitochondrial TXTP_ ...
    https://medlineplus.gov/genetics/gene/slc25a1 - Genetics
  8. Deoxyguanosine kinase deficiency 
    ... failure. J Pediatr Gastroenterol Nutr. 2009 Jul;49(1):130-2. doi: ... and combined deficiencies of the mitochondrial respiratory chain in patients ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  9. Primary coenzyme Q10 deficiency 
    ... apparent in infancy and causes severe brain dysfunction combined with muscle weakness (encephalomyopathy) and the failure of ... Central Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010;16(2):183- ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  10. RRM2B gene 
    ... body systems. It typically leads to brain dysfunction combined with muscle weakness (encephalomyopathy) and a problem with ... Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012 ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics