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Glossary for Trihydroxycholestanoylcoa oxidase isolated deficiency

  • Ataxia: It is a neurological sign and symptom consisting of gross lack of co-ordination of muscle movements.
  • 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.
  • Dry skin: Dryness of the skin.
  • Dysarthria: Dysarthria is a motor speech disorder characterized by difficulty forming and expressing words that is the result of injury to or pathology of the nervous system.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Reduced muscle tone: Reduced muscle tone is a loss of or less than normal amount of muscle tightness.

 

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