Alkaptonuria - Case report

Abstract

Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He also complained about darkening of urine, sperm and underwear. Incisional biopsy of second hand finger and test for homogentisic acid in the urine results were positive. The findings are compatible with the diagnosis of alkaptonuria. Given these findings, treatment was initiated, followed-up by other specialties and he was advised to avoid certain foods.

Melanins as Sustainable Resources for Advanced Biotechnological Applications

“…[ 427,428 ] Photography offers a simple method of capturing evidence of color over a large scale (mm to km), consequently, photographs provide a useful initial starting point in studies of phenomena, including architectural coloration, [ 62 ] birds plumage, [ 429 ] and medical case reports of gross anatomical observations of the discoloration of tissues for patients with alkaptonuria or their production of darkly colored urine. [ 430–434 ] However, photographs do not normally differentiate the source of coloration (pigmentation, reflection, scattering, transmission, and/or interference effects [ 429,435–437 ] ) motivating the application of high‐resolution microscopy potentially combined with another analytical technique (e.g., scanning electron microscopy and energy dispersive X‐ray spectroscopy). An exception to this utilizes recent advances in digital camera technologies (potentially with smart phones) that enable hyperspectral imaging which facilitates characterization of melanins, [ 438 ] and points toward some potentially very exciting developments in affordable personalized medicine that are aligned with the UN SDGs (specifically SDG 3, good health and well‐being, due to the prevalence of smart phones worldwide).…”

Secondary osteoarthritis to ochronotic arthropathy - a diagnostic challenge

“…Alkaptonuria is a genetic disorder of the tyrosine metabolism with autosomal recessive transmission, characterized by deficiency of the enzyme homogentisic acid oxidase. [1][2][3][4] The disease presents an estimated prevalence of 1:250,000, data being rare in Brazil. 1,5 It predominates in males and usually occurs after the fourth decade of life.…”