NEONATAL CITRULLINEMIA
\nˈiːə͡ʊnˌe͡ɪtə͡l sˌɪtɹəla͡ɪnˈiːmi͡ə], \nˈiːəʊnˌeɪtəl sˌɪtɹəlaɪnˈiːmiə], \n_ˈiː__əʊ_n_ˌeɪ_t_əl s_ˌɪ_t_ɹ_ə_l_aɪ_n_ˈiː_m_iə]\
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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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Quinones
- Hydrocarbon rings which contain two moieties position. They can be substituted in any position except at the ketone groups.