Alkaptonuria Severity and Ochronosis Assessment

Assesses alkaptonuria disease burden using urinary homogentisic acid excretion, ochronotic deposition severity, joint involvement, and cardiac valve disease to monitor nitisinone therapy response

Each component has a specific meaning:

• Urinary homogentisic acid excretion — The urinary homogentisic acid excretion recorded for the scenario being assessed.
• Ochronotic deposition severity — The ochronotic deposition severity recorded for the scenario being assessed.
• Joint involvement — The joint involvement recorded for the scenario being assessed.
• Cardiac valve disease — The cardiac valve disease recorded for the scenario being assessed.

Note: Interpret the alkaptonuria severity result against the thresholds and context described above.

Enter the urinary homogentisic acid excretion, ochronotic deposition severity, joint involvement, cardiac valve disease for the scenario you are assessing. Assesses alkaptonuria disease burden using urinary homogentisic acid excretion, ochronotic deposition severity, joint involvement, and cardiac valve disease to monitor nitisinone therapy response. Use the alkaptonuria severity result to inform your calculation.