CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROMES
\kˌɑːbə͡ʊhˈa͡ɪdɹe͡ɪt dɪfˈɪʃənt ɡlˈa͡ɪkəpɹˌə͡ʊtiːn sˈɪndɹə͡ʊmz], \kˌɑːbəʊhˈaɪdɹeɪt dɪfˈɪʃənt ɡlˈaɪkəpɹˌəʊtiːn sˈɪndɹəʊmz], \k_ˌɑː_b_əʊ_h_ˈaɪ_d_ɹ_eɪ_t d_ɪ_f_ˈɪ_ʃ_ə_n_t ɡ_l_ˈaɪ_k_ə_p_ɹ_ˌəʊ_t_iː_n s_ˈɪ_n_d_ɹ_əʊ_m_z]\
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An inborn error of carbohydrate metabolism manifesting as a genetic multisystem disorder of autosomal recessive inheritance. A predominant feature is severe central and peripheral nervous system involvement resulting in psychomotor retardation, seizures, cerebellar ataxia, and other symptoms which include growth retardation, retinitis pigmentosa, hypothyroidism, and fatty liver. The notable biochemical feature is the deficiency of a large number of blood glycoproteins and decreased activities of various blood coagulation factors.
By DataStellar Co., Ltd
Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.