ARGININOSUCCINIC ACID SYNTHASE DEFICIENCY DISEASE
\ˌɑːd͡ʒɪnˌɪnəsəksˈɪnɪk ˈasɪd sˈɪnθe͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \ˌɑːdʒɪnˌɪnəsəksˈɪnɪk ˈasɪd sˈɪnθeɪs dɪfˈɪʃənsi dɪzˈiːz], \ˌɑː_dʒ_ɪ_n_ˌɪ_n_ə_s_ə_k_s_ˈɪ_n_ɪ_k ˈa_s_ɪ_d s_ˈɪ_n_θ_eɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
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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
- argininosuccinate lyase
- argininosuccinate synthase
- argininosuccinate synthase deficiency disease
- argininosuccinate synthetase
- argininosuccinic acid
- Argininosuccinic Acid Synthase Deficiency Disease
- argininosuccinic acid synthetase deficiency disease
- argininosuccinic acid synthetase deficiency, complete
- arginyl trna synthetase
- argiope
- argiope aurantia