A 35 - year - old man presents to the physician with arthritic pain in both knees along with back pain. He states that the pain has been present for months. The patient is afebrile, and his slightly swollen knee joints are neither hot nor tender to palpation; however the pain does restrict his motion. The cartilage of his ears appears slightly darker than normal. No tophi are present. A urine specimen is taken for analysis of uric acid content and turns black in the laboratory? While standing. What is the most likely diagnosis at this point?
(A) Alkaptonuria # ALKAPTONURIA a lack of the enzyme homogentisic acid oxidase leads to deposition of homogentisic acid in the joints and cartilage, giving them a dark color (ochronosis) resulting in degenerative changes.> Classically, the urine of these patients turns black on contact with air or when the urine is made alkaline associated defect is on chromosome 3.
Alkaptonuria
Ankylosing spondylitis
Maple syrup urine disease
Phenylketonuria
Miscellaneous (Bio-Chemistry)