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Results 1 - 10 of 128 for Complex V deficiency
  1. Mitochondrial complex V deficiency 
    Mitochondrial complex V deficiency is a shortage (deficiency) of a protein complex called complex V or a loss of its function. ... which cells derive much of their energy.Mitochondrial complex V deficiency can cause a wide variety of signs and ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  2. TMEM70 gene 
    ... have been identified in people who have mitochondrial complex V deficiency, a disorder with a wide variety of signs ... descent, and account for the majority of mitochondrial complex V deficiency cases caused by TMEM70 gene mutations. This disorder ...
    https://medlineplus.gov/genetics/gene/tmem70 - 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. MT-ATP6 gene 
    ... Health Condition MedlinePlus Genetics provides information about Mitochondrial complex V deficiency More About This Health Condition Some of the ...
    https://medlineplus.gov/genetics/gene/mt-atp6 - Genetics
  5. GRACILE syndrome 
    ... Zhang DL, Smet J, van Coster R, Fellman V. Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion. 2010 Aug;10(5):497-509. doi: ... Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, ...
    https://medlineplus.gov/genetics/condition/gracile-syndrome - Genetics
  6. ACAD9 deficiency 
    ... deficiency National Organization for Rare Disorders (NORD) MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20; MC1DN20 PubMed Aintablian HK, Narayanan V, Belnap N, Ramsey K, Grebe TA. An atypical ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  7. Mitochondrial complex I deficiency 
    ... C, Henrion D, Bonneau D, Reynier P, Procaccio V. Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. Int J Biochem Cell Biol. 2015 Aug;65: ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  8. BCS1L gene 
    ... Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency. Hum Mutat. 2010 Aug;31(8):930-41. doi: 10.1002/humu.21294. Citation on PubMed Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
  9. MT-ND5 gene 
    ... Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rotig A, Munnich A. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet. 2003 Mar;40(3):188- ...
    https://medlineplus.gov/genetics/gene/mt-nd5 - Genetics
  10. Adenylosuccinate lyase deficiency 
    ... Free article on PubMed Central Zikanova M, Skopova V, Hnizda A, Krijt J, Kmoch S. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. Hum Mutat. 2010 Apr;31(4):445-55. ...
    https://medlineplus.gov/.../adenylosuccinate-lyase-deficiency - Genetics
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