HYPERKALEMIC PERIODIC PARALYSES
\hˌa͡ɪpəke͡ɪlˈiːmɪk pˌi͡əɹɪˈɒdɪk pˈaɹəlˌa͡ɪzɪz], \hˌaɪpəkeɪlˈiːmɪk pˌiəɹɪˈɒdɪk pˈaɹəlˌaɪzɪz], \h_ˌaɪ_p_ə_k_eɪ_l_ˈiː_m_ɪ_k p_ˌiə_ɹ_ɪ__ˈɒ_d_ɪ_k p_ˈa_ɹ_ə_l_ˌaɪ_z_ɪ_z]\
Sort: Oldest first
-
An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)
By DataStellar Co., Ltd
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.