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Glossary for NADH cytochrome B5 reductase deficiency

  • Athetosis: Slow, continuous, involuntary writhing movements. Usually the hands and feet are involved but the face, tongue, neck and other muscle groups may also be involved.
  • 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.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hereditary methemoglobinemia, recessive: A rare inherited blood disorder where the hemoglobin (the oxygen-carrying part of red blood cells) can't bind with oxygen which impairs the oxygen supply to parts of the body, especially during exertion when more oxygen is needed by the body. Type I has enzyme deficiency (cytochrome B5 reductase) only in the red blood cells whereas in Type II the enzyme deficiency occurs in other body cells as well as red blood cells.
  • Mental problems: Symptoms affecting judgement, thought or intelligence.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Methaemoglobinaemia: The presence of methaemoglin in the a persons blood
  • Small head: The occurrence of a head which is smaller than normal
  • Strabismus: Eyes not moving together properly

 

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