MUCOSULFATIDOSIS
\mjˌuːkəsˌʌlfɐtɪdˈə͡ʊsɪs], \mjˌuːkəsˌʌlfɐtɪdˈəʊsɪs], \m_j_ˌuː_k_ə_s_ˌʌ_l_f_ɐ_t_ɪ_d_ˈəʊ_s_ɪ_s]\
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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)
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Word of the day
tinctura quininae ammoniata
- A preparation made by dissolving quinin sulphate in alcohol [Br. Ph.].