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Results 1 - 10 of 24 for Mitochondrial encephalopathy
  1. Mitochondrial neurogastrointestinal encephalopathy disease 
    Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system ... myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and ... disease MNGIE syndrome Myoneurogastrointestinal encephalopathy syndrome ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  2. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 
    ... Mitochondrial myopathy, lactic acidosis, stroke-like episode Myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke Genetic Testing Registry: MELAS syndrome ...
    https://medlineplus.gov/...-lactic-acidosis-and-stroke-like-episodes - Genetics
  3. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... the condition. FBXL4 deficiency FBXL4-related early onset mitochondrial encephalopathy Mitochondrial DNA depletion syndrome 13, encephalomyopathic type MTDPS13 ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  4. Mitochondrial complex III deficiency 
    ... assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet. 2007 May 15;16(10):1241-52. doi: 10.1093/hmg/ddm072. Epub 2007 Apr 2. Citation on PubMed ... of the mitochondrial genetic background in complex III deficiency. PLoS One. ...
    https://medlineplus.gov/.../mitochondrial-complex-iii-deficiency - Genetics
  5. Intestinal pseudo-obstruction 
    ... as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) or mitochondrial neurogastrointestinal encephalopathy disease (MNGIE disease). Infections, surgery, or certain drugs ...
    https://medlineplus.gov/.../condition/intestinal-pseudo-obstruction - Genetics
  6. Carbonic anhydrase VA deficiency 
    ... Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Mitochondrial carbonic anhydrase va deficiency Genetic Testing Registry: Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency National Organization ...
    https://medlineplus.gov/.../carbonic-anhydrase-va-deficiency - Genetics
  7. Ethylmalonic encephalopathy 
    ... Rimoldi M, Zeviani M. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med. 2009 Feb;15(2):200-5. ...
    https://medlineplus.gov/.../condition/ethylmalonic-encephalopathy - Genetics
  8. Mitochondrial complex I deficiency 
    ... any time from birth to adulthood.People with mitochondrial complex I deficiency typically have neurological problems, such as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements ( ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  9. Multiple mitochondrial dysfunctions syndrome 
    ... 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 ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  10. MEGDEL syndrome 
    ... I, Saada A, Sprecher E, Mandel H. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
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