COMPLETE ARGININOSUCCINIC ACID SYNTHETASE DEFICIENCY DISEASE
\kəmplˈiːt ˌɑːd͡ʒɪnˌɪnəsəksˈɪnɪk ˈasɪd sˈɪnθɪtˌe͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \kəmplˈiːt ˌɑːdʒɪnˌɪnəsəksˈɪnɪk ˈasɪd sˈɪnθɪtˌeɪs dɪfˈɪʃənsi dɪzˈiːz], \k_ə_m_p_l_ˈiː_t ˌɑː_dʒ_ɪ_n_ˌɪ_n_ə_s_ə_k_s_ˈɪ_n_ɪ_k ˈa_s_ɪ_d s_ˈɪ_n_θ_ɪ_t_ˌeɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
Definitions of COMPLETE ARGININOSUCCINIC ACID SYNTHETASE DEFICIENCY DISEASE
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A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
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Nearby Words
- complementation tests
- complementoid
- complementophil
- complementophilic group
- complete
- Complete Argininosuccinic Acid Synthetase Deficiency Disease
- complete blindness
- complete blood count
- complete blood counts
- complete buck
- complete cataract