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Clinical features

Authoring team

In addition to the discolouration of the urine, other effects are:

  • pigmentation of connective tissues - these become slate blue, noticeable in the ears and the sclera
  • accumulation in the cartilage can lead to:
    • secondary degenerative changes
    • intervertebral disc degeneration and calcification
  • increased incidence of ischaemic heart disease, calcification of the cardiac valves, and occasionally arterial aneurysms

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