II. Pathophysiology
- Rare, Autosomal Recessive genetic disorder
- Accumulation of homogentisic acid (due to disrupted metabolism of Phenylalanine and Tyrosine)
- Deposition in connective tissue (skin, joints), as well as Kidneys and Cardiovascular System
III. Findings
- Blue-gray skin pigmentation develops by age 30-60 years
- Arthropathy is common due to joint deposition