Mitochondrial ornithine aminotransferase (OAT) catalyzes the reversible reaction of ornithine and alpha-ketoglutarate to form glutamate semialdehyde and glutamate (Ohura et al. 1982). The active enzyme is a hexamer (Shen et al. 1998). Inherited OAT deficiency leads to ornithine accumulation in vivo and gyrate atrophy of the choroid and retina (Brody et al. 1992; Valle and Simell 2001).
Scriver, CR, Beaudet, AL, Valle, D, Sly, WS
Ohura, T, Kominami, E, Tada, K, Katunuma, N
Shen, BW, Hennig, M, Hohenester, E, Jansonius, JN, Schirmer, T
Brody, LC, Mitchell, GA, Obie, C, Michaud, J, Steel, G, Fontaine, G, Robert, MF, Sipila, I, Kaiser-Kupfer, M, Valle, D
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