ORNITHINE TRANSCARBAMYLASE DEFICIENCY DISEASE
\ˈɔːnɪθˌa͡ɪn tɹanskˈɑːbɐmˌɪle͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \ˈɔːnɪθˌaɪn tɹanskˈɑːbɐmˌɪleɪs dɪfˈɪʃənsi dɪzˈiːz], \ˈɔː_n_ɪ_θ_ˌaɪ_n t_ɹ_a_n_s_k_ˈɑː_b_ɐ_m_ˌɪ_l_eɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
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An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as a sex-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)
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Nearby Words
- ornithine monohydrochloride, (d) isomer
- ornithine monohydrochloride, (dl) isomer
- ornithine oxo acid transaminase
- ornithine transaminase
- ornithine transcarbamylase
- Ornithine Transcarbamylase Deficiency Disease
- ornithine vasopressin
- ornithine, (d) isomer
- ornithine, (dl) isomer
- ornithine, (l) isomer
- ornithischia