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Diseases » Alkaptonuria » Glossary

Glossary for Alkaptonuria

  • Acute intermittent porphyria: A rare metabolic disorder characterized by a deficiency in the porphobilinogen deaminase enzyme which results in a build-up of porphyrins or its precursors in the body. Using certain drugs or eating certain foods can trigger the symptoms of the condition.
  • Aminoaciduria: A protein metabolism disorder where excess amino acids are present in the urine.
  • Ankylosing Spondylitis: Inflammation of spinal joints similar to rheumatoid arthritis.
  • Arthritis: General name for any type of joint inflammation, but often means age-related osteoarthritis.
  • Blue sclerae: Blue colouring of the sclerae in the eye.
  • Blue skin: Blueness of the skin
  • Chemical poisoning -- Phenol: Phenol is a chemical used mainly in the production of fertilizer, explosives, rubber, paint, paint remover, perfumes, asbestos products, wood preservatives, resins, textiles, pharmaceuticals and drugs. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • 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.
  • Dark skin: Darkening of the skin as a symptom
  • Dark urine: A dark discolouration of the urine.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hyperpigmentation: Excess skin pigment or coloration
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Stiff joints: Reduced mobility or movement of the joints
  • Urinary system conditions: Medical conditions affecting urination, urinary organs or the urinary system.


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