I CELL DISEASE
\a͡ɪ sˈɛl dɪzˈiːz], \aɪ sˈɛl dɪzˈiːz], \aɪ s_ˈɛ_l d_ɪ_z_ˈiː_z]\
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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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Word of the day
TMP
- 5-Thymidylic acid. A thymine nucleotide containing one phosphate group esterified to the deoxyribose moiety.