CLASSICAL CITRULLINEMIAS
\klˈasɪkə͡l sˌɪtɹəla͡ɪnˈiːmi͡əz], \klˈasɪkəl sˌɪtɹəlaɪnˈiːmiəz], \k_l_ˈa_s_ɪ_k_əl s_ˌɪ_t_ɹ_ə_l_aɪ_n_ˈiː_m_iə_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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Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.