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Gene Review

OAT  -  ornithine aminotransferase

Homo sapiens

Synonyms: GACR, HOGA, OATASE, OKT, Ornithine aminotransferase, mitochondrial, ...
 
 
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Disease relevance of OAT

  • Gyrate atrophy (GA), a recessive eye disease involving progressive loss of vision due to chorioretinal degeneration, is associated with a deficiency of the mitochondrial enzyme ornithine aminotransferase (OATase; ornithine-oxo-acid aminotransferase; L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1.13) with consequent hyperornithinemia [1].
  • These findings suggest that muscle wasting in HOGA is associated with a myopathy that is probably secondary to hyperornithinemia and/or hypolysinemia [2].
 

High impact information on OAT

  • Three patients with the rare hyperornithinemia with gyrate atrophy of the choroid and retina (HOGA) syndrome were studied to elucidate the metabolic derangement and its pathologic concomitants [3].
 

Biological context of OAT

  • Twenty-nine Finnish patients (8-80 years old during follow-up) with hyperornithinemia and gyrate atrophy (HOGA) were followed 2 to 31 years to determine when and how rapidly visual acuities and visual functions were affected by the disease [4].

References

  1. Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. Ramesh, V., McClatchey, A.I., Ramesh, N., Benoit, L.A., Berson, E.L., Shih, V.E., Gusella, J.F. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  2. Myopathy in hyperornithinemic gyrate atrophy of choroid and retina. Shapira, Y., Yatziv, S., Merin, S., Statter, M., Yarom, R. Isr. J. Med. Sci. (1981) [Pubmed]
  3. Amino-acid metabolism and liver ultrastructure in hyperornithinemia with gyrate atrophy of the choroid and retina. Arshinoff, S.A., McCulloch, J.C., Matuk, Y., Phillips, M.J., Gordon, B.A., Marliss, E.B. Metab. Clin. Exp. (1979) [Pubmed]
  4. The natural history of gyrate atrophy of the choroid and retina. Takki, K.K., Milton, R.C. Ophthalmology (1981) [Pubmed]
 
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