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Hannah's mother, Terry Poling, has stated that "The government chose to believe the first theory", but added that "We don’t know that she had an underlying disorder." [ 8 ] However, the Polings' neurologist, Andrew Zimmerman, wrote in a letter to the Polings' attorneys that there was a pre-existing mitochondrial dysfunction.
Poling was diagnosed months later with encephalopathy (brain disease) caused by a mitochondrial enzyme deficit, a mitochondrial disorder; it is not unusual for children with such deficits to develop neurologic signs between their first and second years. [29]
Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD or PDH deficiency) is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC). [1]
Mutations in the MT-TK gene are associated with myoclonic epilepsy and ragged-red fiber disease . [4] [5] Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence ...
Yobal In your deletion of the time magazine article on Poling you said she did not have autism. The Time magazine article quotes HER VERY OWN DOCTOR who thinks ...
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.
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 ]
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.