MUCOLIPIDOSIS I
\mjˌuːkəlˌɪpɪdˈə͡ʊsɪs ˈa͡ɪ], \mjˌuːkəlˌɪpɪdˈəʊsɪs ˈaɪ], \m_j_ˌuː_k_ə_l_ˌɪ_p_ɪ_d_ˈəʊ_s_ɪ_s ˈaɪ]\
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A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. Mental retardation and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
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