Ornithinaemia
Definition:
Ornithinemia due to deficiency of ornithine ketoacid aminotransferase induces hyperornithinemia and gyrate atrophy.
References:
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[1]. N Seiler, et al. Ornithine aminotransferase, a potential target for the treatment of hyperammonemias. Curr Drug Targets. 2000 Sep;1(2):119-53. [Content Brief]
[2]. Satoshi Katagiri, et al. OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina. Doc Ophthalmol. 2014 Apr;128(2):137-48. [Content Brief]
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