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Results 1 - 9 of 9 for Combined oxidative phosphorylation deficiency
  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 phosphorylation deficiency 1 have severe brain dysfunction (encephalopathy) that worsens ...
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics
  2. 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
  3. GFM1 gene 
    ... the GFM1 gene have been found to cause combined oxidative phosphorylation deficiency 1. This condition causes severe neurologic and liver ... the neurological and liver problems in people with combined oxidative phosphorylation deficiency 1. It is thought that other tissues that ...
    https://medlineplus.gov/genetics/gene/gfm1 - Genetics
  4. SLC25A1 gene 
    ... cause a form of 2-hydroxyglutaric aciduria called combined D,L-2-hydroxyglutaric aciduria (D,L-2- ... contributes to the severe signs and symptoms of combined D,L-2-HGA More About This Health ...
    https://medlineplus.gov/genetics/gene/slc25a1 - Genetics
  5. ACAD9 deficiency 
    ... A, de Coo IF, Smeets HJ. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an ... dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation ... function in fatty acid oxidation deficiencies. Hum Mol Genet. 2014 Mar 1;23(5): ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  6. 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
  7. Deoxyguanosine kinase deficiency 
    ... Munnich A, Rotig A. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  8. 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
  9. Spastic paraplegia type 7 
    ... adulthood. The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics