AKU Society

The symptoms of Alkaptonuria vary from one person to another. Those described here do not necessarily apply to every patient, but generally will be seen to some degree. 

Most young people (under 20) have few or no symptoms other than the discolouration of their urine, which turns black when left to stand in air:

Narrowing and calcification of intervertebral spaces:
These four radiographs show evidence of disc degeneration of the spine and dense calcifications. The first image (from an 18-year old patient) shows the normal intervertebral spacing. The second image (from a 34-year old patient) shows that the spaces between discs have narrowed and have signs of calcification (arrow). The third image and fourth images (from a 46-year old patient and a 62-year old patient, respectively) show more pronounced narrowing and calcification at all intervertebral spaces, demonstrating the progressive nature of alkaptonuria.

                  18 years                                      34 years                                              46 years                                          62 years



Calcification of the blood vessels:
- Coronary arteries
- Aorta,
- Mitral and aortic valves.


Pigmentation in the eye:
These photos show ochronotic pigmentation of the sclera (white of the eye) at various ages and among different patients.


   

          31-40 years                             41-50 years                                 51-60 years                             61-80 years


Pigmentation of the ear:
We can see the blue discolouration (ochronotic pigmentation) of the cartilage under the pinna of the ear, demonstrating the progression over time.


   

        31-40 years                            41-50 years                                 51-60 years                                 61-80 years


Prostate and Kidney Stones:
This radiography shows several prostate stones (follow arrows) in a 46-year old male patient.

 



This photo shows a prostate stone which was removed from a 77-year old patient. At its widest, the stone measured 1cm.

Black pigment deposition in cartilage, connective tissue, and the main joints (hips, shoulders, elbows, knees, spine): 

This a photo of a knee joint from an Alkaptonuric patient, taken during joint replacement surgery. You can see that the cartilage has blackened due to the disease.

The next picture shows an elbow joint, again taken during joint replacement surgery.