WordNet

a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine (同)alcaptonuria

English Journal

Sag AA, Silbergleit R, Olson RE, Wilson J, Krishnan A.SourceDepartment of Radiology, William Beaumont Hospital, Royal Oak, MI 48073, USA. alan.sag@beaumont.edu
Spine.Spine (Phila Pa 1976).2012 Oct 1;37(21):E1361-3.
STUDY DESIGN: Case report.OBJECTIVE: To report a rare case of alkaptonuria presenting as a T1-hyperintense disc herniation.SUMMARY OF BACKGROUND DATA: A 46-year-old man without previous diagnosis of alkaptonuria underwent evaluation for progressive back pain revealing a T1-hyperintense disc herniati
PMID 22772574

Braconi D, Bernardini G, Bianchini C, Laschi M, Millucci L, Amato L, Tinti L, Serchi T, Chellini F, Spreafico A, Santucci A.SourceDipartimento di Biotecnologie, Università degli Studi di Siena, Siena, Italy.
Journal of cellular physiology.J Cell Physiol.2012 Sep;227(9):3333-43. doi: 10.1002/jcp.24033.
Alkaptonuria (AKU) is a rare genetic disease associated with the accumulation of homogentisic acid (HGA) and its oxidized/polymerized products which leads to the deposition of melanin-like pigments (ochronosis) in connective tissues. Although numerous case reports have described ochronosis in joints
PMID 22213341