ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE
\ˈɔːnɪθˌa͡ɪn kˈɑːbɐmˌɔ͡ɪltɹɐnsfˌɜːɹe͡ɪz dɪfˈɪʃənsi dɪzˈiːz], \ˈɔːnɪθˌaɪn kˈɑːbɐmˌɔɪltɹɐnsfˌɜːɹeɪz dɪfˈɪʃənsi dɪzˈiːz], \ˈɔː_n_ɪ_θ_ˌaɪ_n k_ˈɑː_b_ɐ_m_ˌɔɪ_l_t_ɹ_ɐ_n_s_f_ˌɜː_ɹ_eɪ_z 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
- ornithine 2 ketoglutarate aminotransferase
- ornithine 8 vasopressin
- ornithine aminotransferase
- ornithine carbamoyltransferase
- Ornithine Carbamoyltransferase Deficiency Disease
- ornithine carbamylphosphate transferase
- ornithine carboxy lyase
- ornithine decarboxylase
- ornithine dihydrochloride, (l) isomer
- ornithine hydrochloride, (d) isomer