Article
Ashy ears.
TheScientificWorldJournal - 3 Aug 2010
Rallis Efstathios, Kintzoglou Stephanos
Abstract excerpt
Alkaptonuria is a rare, autosomal-recessive disease of tyrosine degradation resulting from accumulation of homogentisic acid (HGA) within the body due to deficiency of the hepatic enzyme homogentisate 1,2-dioxygenase[1]. HGD is the gene encoding homogentisate 1,2-dioxygenase and is the only gene known to be associated with alkaptonuria. In this patient the disease also manifested itself with symmetric blue-gray...
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