mucolipidosis I

mucolipidosis

[mu″ko-lip″ĭ-do´sis] (pl. mucolipido´ses) any of a group of genetic disorders in which both glycosaminoglycans" >glycosaminoglycans (GAGs) and lipids" >lipids accumulate in tissues, but without excess of GAG in the urine.mucolipidosis I sialidosis (type I).mucolipidosis II a rapidly progressing disease of young children, histologically characterized by abnormal fibroblasts containing a large number of dark inclusions which fill the central part of the cytoplasm except for the juxtanuclear zone (I-cells), and clinically by severe growth impairment, minimal hepatic enlargement, extreme mental and motor retardation, and clear corneas; inherited as an autosomal recessive trait, it is due to deficiency of multiple lysosomal hydrolases. Called also I-cell disease.mucolipidosis III a disorder similar to but milder than mucolipidosis II, and thought to be due to the same enzyme deficiency but to a lesser extent. Called also pseudo-Hurler polydystrophy.mucolipidosis IV a form marked by early corneal clouding, psychomotor retardation, and the presence of lysosomal storage bodies; thought to be transmitted as an autosomal recessive trait.

mu·co·lip·i·do·sis I

[MIM*256550] mucolipidosis somewhat like a mild form of Hurler syndrome with coarse facial features, macular cherry red spots, myoclonus epilepsy, mild dysostosis multiplex, and moderate mental retardation due to neuraminidase deficiency; autosomal recessive inheritance caused by mutation in the neuraminidase gene (NEU) on 6p. Synonym(s): lipomucopolysaccharidosis

mucolipidosis I

n. See sialidosis.

mu·co·lip·i·do·sis I

, pl. mucolipidoses (myū'kō-lip-i-dō'sis, -sēz) Mucolipidosis somewhat like a mild form of Hurler syndrome with coarse facial features, macular cherry red spots, myoclonus epilepsy, mild dysostosis multiplex, and moderate mental retardation due to neuraminidase deficiency.

mu·co·lip·i·do·sis I

(myū'kō-lip-i-dō'sis) [MIM*256550] Lysosomal storage disease resembling mild form of Hurler syndrome with coarse facial features, macular cherry red spots, and other findings.

单词	mucolipidosis i
释义	mucolipidosis I mucolipidosis [mu″ko-lip″ĭ-do´sis] (pl. mucolipido´ses) any of a group of genetic disorders in which both glycosaminoglycans" >glycosaminoglycans (GAGs) and lipids" >lipids accumulate in tissues, but without excess of GAG in the urine.mucolipidosis I sialidosis (type I).mucolipidosis II a rapidly progressing disease of young children, histologically characterized by abnormal fibroblasts containing a large number of dark inclusions which fill the central part of the cytoplasm except for the juxtanuclear zone (I-cells), and clinically by severe growth impairment, minimal hepatic enlargement, extreme mental and motor retardation, and clear corneas; inherited as an autosomal recessive trait, it is due to deficiency of multiple lysosomal hydrolases. Called also I-cell disease.mucolipidosis III a disorder similar to but milder than mucolipidosis II, and thought to be due to the same enzyme deficiency but to a lesser extent. Called also pseudo-Hurler polydystrophy.mucolipidosis IV a form marked by early corneal clouding, psychomotor retardation, and the presence of lysosomal storage bodies; thought to be transmitted as an autosomal recessive trait. mu·co·lip·i·do·sis I [MIM256550] mucolipidosis somewhat like a mild form of Hurler syndrome with coarse facial features, macular cherry red spots, myoclonus epilepsy, mild dysostosis multiplex, and moderate mental retardation due to neuraminidase deficiency; autosomal recessive inheritance caused by mutation in the neuraminidase gene (NEU) on 6p. Synonym(s): lipomucopolysaccharidosis mucolipidosis I n. See sialidosis. mu·co·lip·i·do·sis I , pl. mucolipidoses* (myū'kō-lip-i-dō'sis, -sēz) Mucolipidosis somewhat like a mild form of Hurler syndrome with coarse facial features, macular cherry red spots, myoclonus epilepsy, mild dysostosis multiplex, and moderate mental retardation due to neuraminidase deficiency. mu·co·lip·i·do·sis I (myū'kō-lip-i-dō'sis) [MIM*256550] Lysosomal storage disease resembling mild form of Hurler syndrome with coarse facial features, macular cherry red spots, and other findings.
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