MUCOSULFATIDOSIS
\mjˌuːkəsˌʌlfɐtɪdˈə͡ʊsɪs], \mjˌuːkəsˌʌlfɐtɪdˈəʊsɪs], \m_j_ˌuː_k_ə_s_ˌʌ_l_f_ɐ_t_ɪ_d_ˈəʊ_s_ɪ_s]\
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
dust storm
- a windstorm that lifts up clouds of dust or sand a windstorm that lifts up clouds dust or sand; "it was the kind of duster not experienced in years"