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Glossary for Complex 4 mitochondrial respiratory chain deficiency, benign infantile myopathy

  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
  • Cytochrome C Oxidase Deficiency: Cytochrome C oxidase deficiency is a rare inherited condition involving insufficient quantities of the cytochromc C oxidase enzyme. This enzyme plays a role in the functioning of the energy producing part of body cells (mitochondria) and its deficiency impairs the energy-producing functions of the cells. The type and severity of symptoms can vary considerably depending on which particular cells in the body are affected and the degree of the enzyme deficiency. In some cases only skeletal muscles are affected whereas in other cases organs such as the heart and brain are involved. In other cases, the whole body may be involved.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Infant health conditions: Medical conditions typically affecting infants (including newborns and babies under one year old).
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Mitochondrial diseases: Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles.
  • Muscle conditions: Any condition that affects the muscles of the body
  • Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.


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