| 释义 |
mucopolysaccharidosis
Thesaurus| Noun | 1. | mucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissuescongenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder - a disease or disorder that is inherited geneticallydysostosis multiplex, gargoylism, Hurler's disease, Hurler's syndrome, lipochondrodystrophy - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation |
mucopolysaccharidosis
mucopolysaccharidosis [mu″ko-pol″ĭ-sak″ah-rĭ-do´sis] (pl. mucopolysaccharido´ses) any of a group of genetically determined disorders due to a defect in mucopolysaccharide metabolism, marked by skeletal changes, mental retardation, visceral involvement, and corneal clouding, with widespread tissue deposits and mucopolysacchariduria. hurler's syndrome is the prototype of this disorder.mu·co·pol·y·sac·cha·ri·do·sis, pl. mu·co·pol·y·sac·cha·ri·do·ses (myū'kō-pol'ē-sak'ă-ri-dō'sis, -sēz), [MIM*252700] Any of a group of lysosomal storage diseases that have in common a disorder in metabolism of mucopolysaccharides, as evidenced by excretion of various mucopolysaccharides in urine and infiltration of these substances into connective tissue, with resulting various defects of bone, cartilage, connective tissue, and other organs.mucopolysaccharidosis (myo͞o′kō-pŏl′ē-săk′ə-rĭ-dō′sĭs)n. Any of several progressive genetic diseases characterized by the absence or nonfunctioning of enzymes that break down glycosaminoglycans (formerly called mucopolysaccharides), resulting in accumulation of gylcosaminoglycans in the tissues and dysfunction of multiple organ systems, especially the skeletal and nervous sytems. The types include MPS IH (Hurler syndrome), MPS IH/S (Hurler-Scheie syndrome), MPS IS (Scheie syndrome, formerly known as MPS V), MPS II (Hunter syndrome), MPS III (Sanfilippo syndrome), MPS IV (Morquio syndrome), MPS VI (Maroteaux-Lamy syndrome), and MPS VII (Sly syndrome).mucopolysaccharidosis A heterogeneous group of diseases each caused by a specific enzyme deficiency, resulting in an accumulation of substrate mucopolysaccharides–glycosaminoglycans–eg, dermatan sulfate, heparan sulfate, keratan sulfates Clinical Childhood onset of Sx–eg, developmental delay, mental retardation, short stature, skeletal anomalies–dysostosis multiplex, coarse facial features, hepatosplenomegaly. See Gargoyle face. mu·co·pol·y·sac·cha·ri·do·sis, pl. mucopolysaccharidoses (myū'kō-pol'ē-sak'ă-ri-dō'sis, -sēz) Any of a group of lysosomal storage diseases that have in common a disorder in metabolism of mucopolysaccharides, as evidenced by excretion of various mucopolysaccharides in urine and infiltration of these substances into connective tissue, with resulting various defects of bone, cartilage, connective tissue, and other organs. mu·co·pol·y·sac·cha·ri·do·sis, pl. mucopolysaccharidoses (myū'kō-pol'ē-sak'ă-ri-dō'sis, -sēz) [MIM*252700] Any of a group of lysosomal storage diseases that share a disorder in metabolism of mucopolysaccharides. AcronymsSeeMPŠmucopolysaccharidosis
Related to mucopolysaccharidosis: mucopolysaccharidosis type 6, Hurler syndrome, SphingolipidosesWords related to mucopolysaccharidosisnoun any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissuesRelated Words- congenital disease
- genetic abnormality
- genetic defect
- genetic disease
- genetic disorder
- hereditary condition
- hereditary disease
- inherited disease
- inherited disorder
- dysostosis multiplex
- gargoylism
- Hurler's disease
- Hurler's syndrome
- lipochondrodystrophy
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