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Glossary for Multiple carboxylase deficiency, propionic acidemia

  • Acid-Base Imbalance: A disruption to the normal acid-base equilibrium in the body. There are four main groups of disorder involving an acid-base imbalance: respiratory acidosis or alkalosis and metabolic acidosis or alkalosis. Obviously the severity of symptoms is determined by the degree of imbalance.
  • Blood conditions: Conditions that affect the blood
  • 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
  • Hair loss: Loss or thinning of head or body hair
  • Hearing loss: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
  • Immune deficiency: Any of various diseases that suppress the immune system.
  • 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.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.
  • Skin rash: A reaction to the exposure of the skin to an allergen

 

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