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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.
Mitochondrial disease can manifest in many different ways [1] whether in children [2] or adults. [3] Examples of mitochondrial diseases include: Mitochondrial myopathy [2] [3] Maternally inherited diabetes mellitus and deafness (MIDD) [4] While diabetes mellitus and deafness can be found together for other reasons, at an early age this ...
Carolyn Mary Sue AM is an Australian neurologist, scientist, professor and research director. She has been the executive director of the Kolling Institute of Medical Research since 2019 and is also Director of Neurogenetics at Royal North Shore Hospital, Director of the Centre of Excellence for Parkinson's Disease and Movement Disorders, and Director of the National Centre for Adult Stem Cell ...
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.
“Mitochondria play a vital role in cellular energy production, metabolism, and immune response. By understanding how mitochondrial dysfunction contributes to Crohn’s disease, researchers can ...
Some GSDs and a mitochondrial myopathy are known to have a pseudoathletic appearance. McArdle disease (GSD-V) and late-onset Pompe disease (GSD-II) are known to have hypertrophy, particularly of the calf muscles. [14] [15] Cori/Forbes disease (GSD-III) is known to have hypertrophy of the sternocleidomastoid, trapezius, quadriceps, and thigh ...
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 complex II deficiency, also called CII deficiency, is a rare mitochondrial disease caused by deficiency of mitochondrial complex II, also known as Succinate dehydrogenase (SDH). SDH plays a key role in metabolism; the catalytic end, made up of SDHA and SDHB oxidizes succinate to fumarate in the tricarboxylic acid (TCA) cycle.