CYTOCHROME C OXIDASE DEFICIENCY
\sˈa͡ɪtəkɹˌə͡ʊm sˈiː ˈɒksɪdˌe͡ɪs dɪfˈɪʃənsi], \sˈaɪtəkɹˌəʊm sˈiː ˈɒksɪdˌeɪs dɪfˈɪʃənsi], \s_ˈaɪ_t_ə_k_ɹ_ˌəʊ_m s_ˈiː_ ˈɒ_k_s_ɪ_d_ˌeɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i]\
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A disease that results from a congenital defect in CYTOCHROME-C OXIDASE. Defects in cytochrome-c oxidase can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. Cytochrome-c oxidase deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)
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