MUCOSULFATIDOSES
\mjˈuːkəsˌʌlfɐtˌɪdə͡ʊzɪz], \mjˈuːkəsˌʌlfɐtˌɪdəʊzɪz], \m_j_ˈuː_k_ə_s_ˌʌ_l_f_ɐ_t_ˌɪ_d_əʊ_z_ɪ_z]\
Sort: Oldest first
-
A group of inherited metabolic disorders characterized by an excessive intra-lysosomal deposition of glycosphingolipids and phosphosphingolipids in the CENTRAL NERVOUS SYSTEM and, to a variable degree, in visceral structures. Clinical features vary with the specific subtype of the disease, but common features include progressive deterioration in psychomotor and visual function. (From Arch Neurol 1998 Aug;55 (8):1055-6; Menkes, Textbook of Child Neurology, 5th ed, p89)
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.