An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
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| "Alkaptonuria is characterized by the accumulation of homogentisic acid (HGA), part of which is excreted in the urine but the excess HGA forms a dark brown ochronotic pigment that deposits in the connective tissue (ochronosis), eventually leading to early-onset severe arthropathy." | ( Kuzin, A; Samarkina, E; Soltysova, A; Zatkova, A, 2022) |
| "Alkaptonuria is a rare autosomal recessive disease." | ( Bludov, AB; Gorozhanin, AV; Krylov, AS; Kuzin, AV; Kuzin, DA; Radenska-Lopovok, SG; Smirnov, AV, 2021) |
| "Alkaptonuria is a degenerative arthropathy that leads to reduction of functional ability." | ( Erraoui, K; Janani, S; Nassar, K, 2022) |
| "Alkaptonuria is a rare autosomal recessive genetic disorder resulting from the deficiency of homogentisate 1,2 dioxygenase (HGD), the third enzyme in the tyrosine degradation pathway." | ( Berdeli, A; Bozaci, AE; Canda, E; Coker, M; Guvenc, MS; Habif, S; Uçar, SK; Yazici, H, 2022) |
| "Alkaptonuria is a disease often forgotten because of its rarity." | ( Batalov, A; Batalov, Z; Karalilova, R; Kostova, T, 2022) |
| "Alkaptonuria is a rare inherited disorder for which there was no disease-modifying treatment." | ( Ranganath, LR; Sireau, N, 2023) |
| "Alkaptonuria is a very rare disorder in which homogentisic acid accumulates due to a deficiency in the activity of homogentisic acid 1,2 dioxygenase." | ( Kanazawa, K; Tomonaga, S; Yamamoto, T; Yoshimura, I, 2023) |
| "Alkaptonuria is an inherited disease caused by homogentisate 1,2-dioxygenase (HGD) deficiency." | ( Bou-Gharios, G; Gallagher, JA; Hughes, AT; Hughes, JH; Keenan, CM; Liu, K; Milan, AM; Norman, BP; Plagge, A; Ranganath, LR; Sakai, T; Sutherland, H; Wilson, PJM, 2019) |
| "Alkaptonuria is an autosomal recessive disorder caused by pathogenic variants in the HGD gene." | ( Auh, S; Avadhanula, S; Burman, KD; Ciccone, C; Filie, AC; Hannah-Shmouni, F; Introne, WJ; Klubo-Gwiezdzinska, J; Regier, D; Soldin, SJ; Stolze, B, 2020) |
| "Alkaptonuria is a rare, genetic, multisystem disease characterised by the accumulation of homogentisic acid (HGA)." | ( Arnoux, JB; Braconi, D; Briggs, M; Bröijersén, A; Bygott, H; Cox, TF; Davison, AS; Dillon, JP; Fisher, M; FitzGerald, R; Gallagher, JA; Genovese, F; Glasova, H; Hall, AK; Hughes, AT; Hughes, JH; Imrich, R; Jarvis, JC; Khedr, M; Laan, D; Le Quan Sang, KH; Loftus, N; Luangrath, E; Lukáčová, O; Milan, AM; Mistry, A; Mlynáriková, V; Norman, BP; Olsson, B; Psarelli, EE; Ranganath, LR; Rhodes, NP; Rovenský, J; Rudebeck, M; Santucci, A; Scott, C; Sedláková, J; Shweihdi, E; Sireau, N; Stančík, R; Szamosi, J; Taylor, S; van Kan, C; Vinjamuri, S; Vrtíková, E; Webb, C; West, E; Záňová, E; Zatkova, A, 2020) |
| "Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism." | ( Chandran, S; Ganesan, S; Jayaraj, J; Sangeetha, G, 2021) |
| "Alkaptonuria is an autosomal recessive disorder of tyrosine metabolism, which results in accumulation of unmetabolized homogentisic acid and its oxidized product in various tissues, including the heart." | ( Goldstein, J; Lok, ZS; Smith, JA, 2013) |
| "Alkaptonuria is a rare disease with autosomal recessive inheritance and variable expression." | ( Boloşiu, C; Botar-Jid, C; Damian, LO; Felea, I; Fodor, D; Rednic, S, 2013) |
| "Alkaptonuria is suspected when the urine changes color after it is left to stand at room temperature for several hours to days; oxidation of homogentisic acid to benzoquinone acetic acid underlies this color change, which is accelerated by the addition of alkali." | ( Fujishiro, M; Ikeda, H; Inagaki, S; Ishige-Wada, M; Kurano, M; Mouri, M; Ohkawa, R; Okubo, S; Shimosawa, T; Shukuya, K; Takahashi, T; Tanaka, M; Tokuhara, Y; Usui, H; Yamaguchi, S; Yatomi, Y; Yokota, H, 2014) |
| "Alkaptonuria is a congenital error of metabolism caused by the deficiency of homogentisic acid oxidase, which subsequently results in the accumulation of homogentisic acid (HGA) in body tissues." | ( Aibara, K; Harayama, N; Ikeda, T; Irifukuhama, Y; Isa, Y; Kamochi, M; Matsumoto, H; Nagata, K; Nihei, S, 2014) |
| "Alkaptonuria is a rare debilitating autosomal recessive disorder of tyrosine metabolism, where deficiency of homogentisate 1,2-dioxygenase results in increased homogentisic acid." | ( Christensen, P; Davison, AS; Dutton, JJ; Gallagher, JA; Hughes, AT; Milan, AM; Ranganath, LR; Ross, G, 2015) |
| "Alkaptonuria is an ultra-rare autosomal recessive disease developed from the lack of homogentisate 1,2-dioxygenase (HGD) activity, causing an accumulation in connective tissues of homogentisic acid (HGA) and its oxidized derivatives in polymerized form." | ( Bernardini, G; Braconi, D; Geminiani, M; Laschi, M; Lupetti, P; Manetti, F; Millucci, L; Santucci, A; Vannuccini, E, 2015) |
| "Alkaptonuria is a genetic disorder characterized by an accumulation of homogentisic acid due to an enzymatic defect of homogentisate 1,2 dioxygenase." | ( Biaou, I; Cotton, F; Koopmansch, C; Pozdzik, A; Roumeguère, T; Vanden Bossche, M; Wolff, F, 2015) |
| "Alkaptonuria is a rare autosomal recessive condition resulting from inability to breakdown homogentisic acid (HGA), an intermediate in tyrosine degradation." | ( Bukhari, M; Jackson, DJ; Mistry, JB; Taylor, AM, 2016) |
| "Alkaptonuria is a rare metabolic disease caused by a partial or total deficiency of homogentisic acid oxidase, which results in excess homogentisic acid (HGA) levels." | ( Karaaslan, F; Karaoğlu, S; Mermerkaya, MU, 2016) |
| "Background Alkaptonuria is a rare, debilitating autosomal recessive disorder affecting tyrosine metabolism." | ( Curtis, S; Davison, AS; Devine, J; Gallagher, JA; Hughes, AT; Khedr, M; Milan, AM; Ranganath, LR; Usher, J, 2017) |
| "Alkaptonuria is a rare disorder of metabolism caused by deficiency of homogentisic acid oxidase enzyme and characterized by triad of homogentisic aciduria (dark urine), relentlessly progressive arthritis and ochronosis." | ( Dhiman, DS; Gupta, D; Kaushal, SS; Mahesh, DM; Negi, A; Raina, S; Sharma, S, 2008) |
| "Alkaptonuria is a rare autosomal recessive metabolic disease that leads to the deposition of homogentisic acid." | ( Al-Mahfoudh, R; Buxton, N; Clark, S, 2008) |
| "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]." | ( Kintzoglou, S; Rallis, E, 2010) |
| "Alkaptonuria is an autosomal recessive disorder that results in deficiency of homogentisic acid oxidase and in the accumulation of homogentisic acid in connective tissue." | ( Anolik, R; Pomeranz, MK; Yancovitz, M, 2010) |
| "Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to deficiency of the third enzyme in the catabolic pathway." | ( Bernardini, I; Bryant, J; Gahl, WA; Introne, WJ; Kayser, MA; Moylan, E; O'Brien, KE; Perry, MB; Reynolds, JC; Sachdev, V; Suwannarat, P; Troendle, J; Tsilou, E, 2011) |
| "Alkaptonuria is a rare metabolic disorder of tyrosine catabolism in which homogentisic acid (HGA) accumulates and is deposited throughout the spine, large joints, cardiovascular system, and various tissues throughout the body." | ( Chen, MY; Gahl, WA; Hannoush, H; Introne, WJ; Kayser, MA; Lee, SJ; O'Brien, K; Sachdev, V; Suwannarat, P, 2012) |
| "Alkaptonuria is a genetic disorder of tyrosine metabolism, resulting in elevated circulating concentrations of homogentisic acid." | ( Boyde, A; Davidson, JS; Gallagher, JA; Hunt, JA; Jarvis, JC; Ranganath, LR; Taylor, AM; Wilson, PJ, 2011) |
| "Alkaptonuria is a rare disease in which a deficiency in the homogentisate 1, 2-dioxygenase enzyme results in a buildup of homogentisic acid." | ( Abimbola, O; Hall, G; Zuckerman, JD, 2011) |
| "Alkaptonuria is a rare inherited disorder of tyrosine metabolism, which results in deposition of homogentisic acid in the connective tissues." | ( Cullen, H; Markman, P; Thakur, S, 2013) |
| "Alkaptonuria is a rare autosomal recessive disorder of inborn errors of metabolism." | ( Aytuğ, AF; Elçioğlu, M; Elçioğlu, NH; Ergun, T; Gürbüz, O; Kotiloğlu, E; Müller, CR, 2003) |
| "Alkaptonuria is a rare, autosomal recessive metabolic disorder in which the homogentisic acid oxidase activity is absent." | ( Daneyemez, M; Gürkanlar, D; Solmaz, I; Temiz, C, 2006) |
| "Alkaptonuria is a human hereditary metabolic disease characterized by a very high urinary excretion of homogentisic acid, an intermediary product in the metabolism of tyrosine, in association with ochronosis and arthritis." | ( Coudé, M; Forest, M; Guénet, JL; Kamoun, P; Lalouette, A; Montagutelli, X, 1994) |
| "Alkaptonuria is a rare metabolic disorder resulting from loss of homogentisate 1,2 dioxygenase (HGO) activity." | ( Beltrán-Valero de Bernabé, D; Fernández-Cañón, JM; Fernández-Ruiz, E; Granadino, B; Peñalva, MA; Renedo, M; Rodríguez de Córdoba, S, 1996) |
| "Alkaptonuria is characterized by an increased urinary excretion of homogentisic acid, pigmentation of cartilage and connective tissues, and ultimately the development of inflammatory arthropathy." | ( Bakker, HD; Carbasius Weber, EC; de Haas, V; de Klerk, JB; Duran, M; Huijbers, WA; Poll-The, BT; Smit, GP, 1998) |
| "Alkaptonuria is a rare autosomal recessive disorder characterized by homogentisic aciduria, ochronosis, and arthritis." | ( Maeda, Y; Oda, K; Suzuki, T; Suzuki, Y; Yoshikawa, Y, 1999) |
| "Alkaptonuria is a rare metabolic disease in which homogentisic acid deposits occur in various body tissues." | ( Stefanadis, C; Toutouzas, P; Triantafillidi, H; Vavuranakis, M, 1998) |
| "Alkaptonuria is a rare metabolic disease in which homogentisic acid cannot be metabolised, due to a lack of the enzyme homogentisic acid oxidase." | ( Jaarsma, AS; Jeucken, YM; van Spronsen, FJ; Visser, G, 1999) |
| "Alkaptonuria is a rare genetic disorder of tyrosine metabolism in which a bluish pigment accumulates in the connective tissues throughout the body, and causes degenerative changes." | ( Cercek, M; Kozelj, M; Prokselj, K, 2002) |
| "Alkaptonuria is found relatively frequently in Slovakia, Eastern Czechoslovakia (1 in 25,000 inhabitants)." | ( Srsen, S, 1979) |
| "Alkaptonuria is a rare autosomal recessive metabolic disease, due to the lack of homogentisic acid oxidase." | ( Bariani, L; Castaldi, G; Cicognani, P; Feggi, L; Orzincolo, C; Scutellari, PN, 1988) |