CHERRY RED SPOT MYOCLONUS SYNDROME
\t͡ʃˈɛɹi ɹˈɛd spˈɒt mˈa͡ɪəklˌə͡ʊnəs sˈɪndɹə͡ʊm], \tʃˈɛɹi ɹˈɛd spˈɒt mˈaɪəklˌəʊnəs sˈɪndɹəʊm], \tʃ_ˈɛ_ɹ_i ɹ_ˈɛ_d s_p_ˈɒ_t m_ˈaɪ_ə_k_l_ˌəʊ_n_ə_s s_ˈɪ_n_d_ɹ_əʊ_m]\
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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)
By DataStellar Co., Ltd
Nearby Words
- cherry crab
- cherry laurel
- cherry pepper
- cherry plum
- cherry red
- Cherry Red Spot Myoclonus Syndrome
- cherry stone
- cherry tomato
- cherry tree
- cherry tree, red
- cherry valley, massacre of