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Pathway Description
Hyperornithinemia with Gyrate Atrophy (HOGA)
Homo sapiens
Disease Pathway
Hyperornithinemia with gyrate atrophy (HOGA), also known as gyrate atrophy of the choroid and retina, OAT deficiency, ornithine aminotransferase deficiency, ornithine keto acid aminotransferase deficiency) is an autosomal recessive disorder of ornithine metabolism caused by a defective ornithine aminotransferase (OAT). OAT catalyzes the conversion of ornithine into proline which is a conditionally essential amino acid. This disease is characterized by a very large accumulation of ornithine in the blood, urine, spinal fluid, and aqueous humour. Symptoms of the disease include early cataract formation, progressive chorioretinal degeneration, and type II muscle fiber atrophy. Some cases of HOGA are vitamin B6-responsive.
References
Hyperornithinemia with Gyrate Atrophy (HOGA) References
[Metagen: HYPERORNITHINEMIA WITH GYRATE ATROPHY (HOGA)](http://metagene.de/program/d.prg?id_d=174)
[OMIM: 258870](http://omim.org/entry/258870})
Caruso RC, Nussenblatt RB, Csaky KG, Valle D, Kaiser-Kupfer MI: Assessment of visual function in patients with gyrate atrophy who are considered candidates for gene replacement. Arch Ophthalmol. 2001 May;119(5):667-9.
Pubmed: 11346393
Fukuda K, Nishi Y, Usui T, Mishima H, Hirata H, Baba S, Choshi K, Tanaka Y, Akiya S: Free amino acid concentrations in blood cells of two brothers with gyrate atrophy of the choroid and retina with hyperornithinaemia. J Inherit Metab Dis. 1983;6(4):137-42.
Pubmed: 6422152
Takki K, Simell O: Gyrate atrophy of the choroid and retina with hyperornithinemia HOGA. Birth Defects Orig Artic Ser. 1976;12(3):373-84.
Pubmed: 953199
Arginine and Proline Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Wu G, Bazer FW, Davis TA, Kim SW, Li P, Marc Rhoads J, Carey Satterfield M, Smith SB, Spencer TE, Yin Y: Arginine metabolism and nutrition in growth, health and disease. Amino Acids. 2009 May;37(1):153-68. doi: 10.1007/s00726-008-0210-y. Epub 2008 Nov 23.
Pubmed: 19030957
Wu G, Morris SM Jr: Arginine metabolism: nitric oxide and beyond. Biochem J. 1998 Nov 15;336 ( Pt 1):1-17. doi: 10.1042/bj3360001.
Pubmed: 9806879
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