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Results 1 - 10 of 11 for mitochondrial hepatopathy
Did you mean mitochondrial "hepato pathy"?
  1. MEGDEL syndrome 
    ... I, Saada A, Sprecher E, Mandel H. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3- ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  2. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
    MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, and ...
    https://medlineplus.gov/...bral-mitochondrial-dna-depletion-syndrome - Genetics
  3. Mitochondrial complex III deficiency 
    ... infancy but can appear later.The severity of mitochondrial complex III ... as liver disease that can lead to liver failure, kidney abnormalities ( ...
    https://medlineplus.gov/.../mitochondrial-complex-iii-deficiency - Genetics
  4. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... can have vision problems, hearing loss, liver abnormalities (hepatopathy), and immune deficiency due to a decrease in ... protein that is found within cell structures called mitochondria. Mitochondria are involved in a wide variety of ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  5. Deoxyguanosine kinase deficiency 
    ... deficiency have the isolated hepatic form, which causes liver disease without serious neurological problems. The myopathic form is ... these infants typically begin to show signs of liver disease and brain dysfunction. Neurological signs and symptoms may ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  6. Ataxia neuropathy spectrum 
    ... and symptoms can include involuntary muscle twitches (myoclonus), liver disease, depression, migraine headaches, or blindness. The prevalence of ... called Twinkle. Pol γ and Twinkle function in mitochondria, which are structures within cells that use oxygen ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics
  7. Alpers-Huttenlocher syndrome 
    ... of mental and movement abilities (psychomotor regression), and liver disease.People with Alpers-Huttenlocher syndrome usually have additional ... polymerase gamma (pol γ). Pol γ functions in mitochondria, which are structures within cells that use oxygen ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
  8. Combined oxidative phosphorylation deficiency 1 
    ... peripheral neuropathy), and an unusually small head (microcephaly). Liver disease is common in people with combined oxidative phosphorylation ... gene provides instructions for making an enzyme called mitochondrial translation elongation factor G1. This enzyme is found ...
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics
  9. Childhood myocerebrohepatopathy spectrum 
    ... delay or a deterioration of intellectual function, and liver disease. Another possible sign of this condition is a ... polymerase gamma (pol γ). Pol γ functions in mitochondria, which are structures within cells that use oxygen ...
    https://medlineplus.gov/.../childhood-myocerebrohepatopathy-spectrum - Genetics
  10. GRACILE syndrome 
    ... digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis) in the first few months of life. ... this gene is found in cell structures called mitochondria, which convert the energy from food into a ...
    https://medlineplus.gov/genetics/condition/gracile-syndrome - Genetics
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