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Glossary for Beta ketothiolase deficiency

  • Beta ketothiolase deficiency: A rare inherited disease characterized by the bodies inability to metabolise certain amino acids and products of the breakdown of fat. Harmful levels of organic acids build up in the body and cause ketoacidic attacks.
  • Coma: Prolonged unconsciousness
  • 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.
  • Dehydration: Loss of fluids in the body
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Metabolic Acidosis: Metabolic acidosis is a process which if unchecked leads to acidemia (i.e. blood pH is low (less than 7.35) due to increased production of H+ by the body or the inability of the body to form bicarbonate (HCO3-) in the kidney.
  • 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.
  • Psychomotor retardation: Psychomotor retardation refers to a slowing of physical movement and speech and activity caused by a mental health or emotional condition, such as depression.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
  • Vomiting: Vomiting or retching symptoms.

 

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