A spinal x-ray will reveal disk degeneration combined with dense calcification, particularly in the lumbar area. A chest x-ray is advised to assess for possible involvement of aortic or mitral valves. No specific stain is available to distinguish homogentisate-derived pigment from melanin, and the 2 compounds have very similar solubility characteristics. In infancy, a history of dark-stained diapers should alert the physician. For infants, young children, and asymptomatic young adults, evaluation by simple urine testing can be done on an outpatient basis.
Medical therapy is used to ameliorate the rate of pigment deposition.
This will minimize articular and cardiovascular complications in later life. Reduction of phenylalanine and tyrosine reportedly has reduced homogentisate excretion. It is not known whether a mild dietary restriction from early in life would avoid or minimize later complications, but such an approach is reasonable. The mild antioxidant nature of ascorbic acid helps to retard the process of conversion of homogentisate to the polymeric material that is deposited in cartilaginous tissues. Older individuals may require removal of lumbar discs with fusion.