Acute fatal metabolic complications in alkaptonuria.
Liverpool, United Kingdom. In J Inherit Metab Dis, Dec 2015
UNASSIGNED: Alkaptonuria (AKU) is a rare inherited metabolic disorder of tyrosine metabolism that results from a defect in an enzyme called homogentisate 1,2-dioxygenase.
Amyloidosis in alkaptonuria.
Siena, Italy. In J Inherit Metab Dis, Sep 2015
Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA) accumulation that produces an HGA-melanin ochronotic pigment, of hitherto unknown composition.
Proteomic analysis of Chromobacterium violaceum and its adaptability to stress.
Manaus, Brazil. In Bmc Microbiol, 2014
Stress-related expression changes were noted for C. violaceum proteins related to the previously characterized bacterial proteins: DnaK, GroEL-2, Rhs, EF-Tu, EF-P; MCP, homogentisate 1,2-dioxygenase, Arginine deiminase and the ATP synthase β-subunit protein as well as for the ribosomal protein subunits L1, L3, L5 and L6.
Lancaster, United Kingdom. In Rare Dis, 2012
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance.
Natural history of alkaptonuria.
Bethesda, United States. In N Engl J Med, 2003
BACKGROUND: Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue.