mucopolysaccharidosis


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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.
References in periodicals archive ?
Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway.
Evaluation of motor response in mucopolysaccharidosis patients treated with enzyme replacement therapy.
Elosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio A Syndrome).
Fognani, "Failure of the laryngeal mask to secure the airway in a patient with Hunter's syndrome (mucopolysaccharidosis type II)," Pediatric Anesthesia, vol.
Mucopolysaccharidosis III (MPS III) (Sanfilippo Syndrome ) - Therapeutics under Investigation by Universities/Institutes 12
In conclusion, MPS IVA is a rare type of mucopolysaccharidosis associated with highly specific dental abnormalities.
Schaaps, "Histopathological diagnosis of a type VII mucopolysaccharidosis after pregnancy termination," Fetal and Pediatric Pathology, vol.
Mucopolysaccharidosis. In: Behrman RE, Kleigman RM, Jenson HB.
* The report provides a snapshot of the global therapeutic landscape of Mucopolysaccharidosis II (MPS II) (Hunter Syndrome )
Mucopolysaccharidosis III: molecular genetics and genotype-phenotype correlations.
REGENXBIO was granted Orphan Drug Designation by the FDA for its investigational gene therapy RGX-111 for the treatment of mucopolysaccharidosis Type I (MPS I), a rare neurodegenerative disease caused by deficiency of the a-l-iduronidase (IDUA) gene.
Talking to journalists, he said Mucopolysaccharidosis Type I (MPS I) was one of such blood diseases that was rare and also severely fatal as could affect physical abilities, organ and system functioning, as well as mental and skeletal development.

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