Clinical features
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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