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Glossary for Triose phosphate-isomerase deficiency

  • Anemia: Reduced ability of blood to carry oxygen from various possible causes.
  • Cardiomyopathy: Any disease of the heart muscle
  • 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.
  • Death: The cessation of life
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Haemolytic anaemia:
  • Heart disease: Any of various heart conditions.
  • Heart failure: Slow failure of the heart (cardiac insufficiency).
  • Infant Death: The death of an infant
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Myopathy: General name for any disease of the muscles.
  • Recurring infection: Recurring infection is a condition in which there are repeated episodes of infection.
  • Spasticity: Continuous contraction or stiffness of muscles.
  • Stillbirth: Where a woman delivers a child who is dead
  • Triosephosphate isomerase 1: A rare inherited blood disorder involving a deficiency of red cell triosephosphate isomerase which is involved in the glycolysis (glucose metabolism) process to produce energy. The disorder is characterized by anemia, recurring infection and often progressive neurological degeneration. The severity of the disorder is variable with some patients having central nervous system involvement while others don't.

 

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