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Glossary for Beta-Glutamylcysteine synthetase deficiency

  • 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.
  • Corneal cerebellar syndrome: A very rare syndrome involving eye problems and progressive motor control problems such as ataxia and weakness on one side of the body.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hemolytic anemia: Hemolytic anemia is a term used to describe the premature desctruction of red blood cells. Red blood cells are normally broken down every 3-4 months and replaced but in haemolytic anemia the red blood cells are broken down at a faster rate than they can be replenished. The causes are numerous and the severity ranges considerably. Severe cases can lead to death.
  • Metabolic disorders: Disorders that affect the metabolic system in human

 

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