Abstract:Alkaptonuria is a rare inborn metabolic disease, in which an enzymatic deficiency accumulates alkapton in different tissues, causing darkness and injury, especially in spine and large cartilages, called ochronosis. The urine darkness can be a key to early diagnosis in childhood, but some cases are missed until adulthood and gradual damage to cartilages causes disability and impairs the patients’ quality of life. Here, a 49-year old male patient is presented with a 2 week history of left knee pain and swelling,… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.