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Glossary for Acute intermittent porphyria

  • Abdominal Pain: A condition which is characterized by the sensation of pain that is located in the abdomen
  • Abdominal distention: The sensation and appearance of distention located in the abdomen
  • Abdominal pain: A condition which is characterized by the sensation of pain that is located in the abdomen
  • Acute abdominal pain: Sudden onset pain occurring within the abdomen.
  • Alkaptonuria: A rare disorder where the abnormal accumulation of a particular acid (homogentisic acid) in the body causes connective tissue and bone damage. This damage gives tissues a dark or bluish discoloration.
  • Chest pain: Pain in the chest area.
  • Chronic Kidney Disease: Long-term and generally irreversible disease of the kidneys due to infection, obstruction, congenital diseases or generalised diseases causing failure of the kidneys' normal functions.
  • 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.
  • Constipation: Difficult or dry bowel movements
  • Depression: Various syndromes with excessive anxiety, phobias, or fear.
  • Dysuria: Painful urination
  • Hyperthyroidism: Too much thyroid hormone production.
  • Irritable bowel syndrome: Spasms in the colon wall
  • Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Nausea: The queasy feeling of nausea and often also vomiting.
  • Neutrophilia: Raised neutrophil levels in the blood.
  • Papilloedema: Oedema that is located at the optic disc
  • Polyneuropathy: Dysfunction and/or damage to neurons, causing a loss of sensory or motor function.
  • Proximal muscle weakness: Weakness of the proximal muscles
  • Psychosis: Mental loss of connection with reality
  • Respiratory failure: Failure of the respiratory system
  • Respiratory paralysis: Respiratory paralysis occurs when the muscles associated with breathing become do weak to function properly. Breathing becomes difficulty and severe cases can result in death if breathing assistance is not delivered. The condition can result from such things as motor neuron disease, trauma and myopathy.
  • SIADH: Inappropriate release of Antidiuretic hormone, resulting in fluid retention.
  • Skin conditions: Any condition that affects the skin
  • Sleep disturbance: Sleeping difficulty, called insomnia, can involve difficulty falling asleep when you first go to bed at night, waking up too early in the morning, and waking up often during the night.
  • Vomiting: Vomiting or retching symptoms.


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