Rallis Efstathios, Kintzoglou Stephanos
Department of Dermatology, Veterans Administration Hospital (NIMTS), Athens, Greece.
ScientificWorldJournal. 2010 Aug 3;10:1530-1. doi: 10.1100/tsw.2010.147.
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 discoloration on the helix cartilage of his ears. The initial diagnosis of alkaptonuria was made some 20 years earlier because of the appearance of low back pain and dark urine. HGA is responsible for the black color of urine and is deposited in the cartilage of the body, including ears.
黑尿症是一种罕见的常染色体隐性酪氨酸降解疾病，由于肝脏中尿黑酸1,2-双加氧酶缺乏，导致体内尿黑酸（HGA）蓄积所致[1]。HGD是编码尿黑酸1,2-双加氧酶的基因，是已知唯一与黑尿症相关的基因。该患者耳部螺旋软骨出现对称性蓝灰色变色，也是黑尿症的表现。约20年前，因出现腰痛和深色尿液，该患者被初步诊断为黑尿症。HGA导致尿液变黑，并沉积在包括耳朵在内的身体软骨中。
