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Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells .
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) is one of the family of mitochondrial diseases, which also include MIDD (maternally inherited diabetes and deafness), MERRF syndrome, and Leber's hereditary optic neuropathy.
Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death. It is usually fatal in infancy.
MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a mitochondrial disease. It is extremely rare, and has varying degrees of expressivity owing to heteroplasmy . [ 1 ] MERRF syndrome affects different parts of the body, particularly the muscles and nervous system . [ 2 ]
For such patients, the anxiety sensitivity index may have better predictivity for anxiety disorders while the Beck Anxiety Inventory may misleadingly suggest anxiety for patients with dysautonomia. [33] Mitochondrial cytopathies can have autonomic dysfunction manifesting as orthostatic intolerance, sleep-related hypoventilation, and arrhythmias.
Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic , hepatopathic , or encephalomyopathic . [ 1 ]
Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. [1] Adenosine triphosphate ( ATP ), the chemical used to provide energy for the cell, cannot be produced sufficiently by oxidative phosphorylation when the mitochondrion is either damaged or missing necessary enzymes or transport proteins.
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