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Homogentisic acid (HGA) is an intermediate formed during the catabolism of phenylalanine and tyrosine. Alkaptonuria, a metabolic disorder, is characterized by high levels of HGA in serum and urine due to the deficiency of the enzyme homogentisic acid oxidase, which is involved in the degradation of HGA.
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WGK 3
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이미 열람한 고객
The New England journal of medicine, 347(26), 2111-2121 (2002-12-27)
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. There is no effective therapy for this disorder, although nitisinone inhibits the
Arthritis and rheumatism, 63(12), 3887-3896 (2011-12-01)
Alkaptonuria is a genetic disorder of tyrosine metabolism, resulting in elevated circulating concentrations of homogentisic acid. Homogentisic acid is deposited as a polymer, termed ochronotic pigment, in collagenous tissues, especially cartilages of weight-bearing joints, leading to a severe osteoarthropathy. We
BMC microbiology, 17(1), 122-122 (2017-05-27)
Combining experimental and computational screening methods has been of keen interest in drug discovery. In the present study, we developed an efficient screening method that has been used to screen 2100 small-molecule compounds for alanine racemase Alr-2 inhibitors. We identified
Pediatric Dermatology E-Book, 507-507 (2011)
Clinica chimica acta; international journal of clinical chemistry, 189(1), 7-11 (1990-07-01)
The clinical and biochemical features of five cases of alcaptonuria were reported. The concentration of homogentisic acid was determined in urine and also in plasma using a rapid, sensitive and specific HPLC method. In all five cases, the concentrations of
문서
Inborn errors of metabolism are caused by changes in specific enzymatic reactions and hundreds of different such alterations, which affect about 1 of every 5000 newborns, have been characterized.
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