DEFICIENCY DISEASE, CARBAMOYL PHOSPHATE SYNTHASE
\dɪfˈɪʃənsi dɪzˈiːz], \dɪfˈɪʃənsi dɪzˈiːz], \d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
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A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
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