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

/mu·co·pol·y·sac·cha·ri·do·sis/ (-sak″ah-ri-do´sis) pl. mucopolysaccharido´ses   any of a group of lysosomal storage disorders due to defective metabolism of glycosaminoglycans, causing their accumulation and excretion and affecting the bony skeleton, joints, liver, spleen, eye, ear, skin, teeth, and the cardiovascular, respiratory, and central nervous systems.

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 (MPS)

[myo̅o̅′kōpol′ēsak′əridō′ sis] pl. mucopolysaccharidoses
Etymology: L, mucus + Gk, polys, many, sakcharon, sugar, osis, condition
one of a group of genetic disorders characterized by greater than normal accumulations of mucopolysaccharides in the tissues, with other symptoms specific to each type. The disorders are numbered MPS I through MPS VII, and each type has a specific eponym. All types are characterized by pronounced skeletal deformity (especially of the face), mental and physical retardation, and decreased life expectancy. The disorders may be detected before birth by testing fetal cells present in amniotic fluid. After birth, diagnosis is established through urine testing, skeletal changes observed on radiographic films, and family history. There is no successful treatment. Kinds of mucopolysaccharidosis include Hunter's syndrome (MPS II), Hurler's syndrome (MPS I), Morquio's disease (MPS IV), Sanfilippo's syndrome (MPS III), and Sly syndrome (MPS VII).

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.

mucopolysaccharidosis (MPS),

n a genetic disorder involving mucopolysaccharide metabolism and leading to excess storage of the material in the tissues. Forms include MPS I, II, III, IV, V, and VI. Eponymic designations are Hurler, Hunter, Sanfilippo, Morquio, Scheie, and Maroteaux-Lamy syndromes.

mucopolysaccharidosis

any of a group of genetically determined disorders due to a defect in glycosaminoglycan (GAG) metabolism, marked by skeletal changes, mental retardation and visceral involvement; abbreviated MPS. Achondroplastic dwarfism in cattle may be a defect of this type.

mucopolysaccharidosis I
caused by an inherited deficiency of α-l-iduronidase with increased urinary excretion of dermatan sulfate and heparan sulfate. Affected dogs and cats show facial dysmorphia, stunted growth, corneal clouding, lameness and granulation of leukocytes. Called also Hurler's syndrome.
mucopolysaccharidosis VI
caused by an inherited deficiency of arylsulfatase B with increased urinary excretion of dermatan sulfate. Affected Siamese cats show facial dysmorphia, corneal clouding, granulation of leukocytes, posterior paresis, and skin nodules. Called also Maroteaux-Lamy syndrome.
mucopolysaccharidosis type VII
caused by a deficiency of β-glucaronidase. Affected dogs have facial dysmorphism and corneal edema.
References in periodicals archive ?
In summary, Hunter syndrome is an uncommon mucopolysaccharidosis that frequently presents in early childhood with multisystem involvement.
Approved products include Naglazyme(R) (galsulfase) for mucopolysaccharidosis VI (MPS VI), a product wholly developed and commercialized by BioMarin; Aldurazyme(R) (laronidase) for mucopolysaccharidosis I (MPS I), a product which was developed through a 50/50 joint venture with Genzyme Corporation; and Kuvan(R) (sapropterin dihydrochloride) Tablets, a product for the treatment of phenylketonuria (PKU), developed in partnership with Merck Serono, a division of Merck KGaA of Darmstadt, Germany.
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients.
A review of the Mucopolysaccharidosis products under development by companies and universities/research institutes based on information derived from company and industry-specific sources.
Mucopolysaccharidosis I is an inherited rare genetic disorder caused by deficient activity of the protein alpha-L-iduronidase.
In humans the same disease, known as mucopolysaccharidosis type VII (MPS VII), remains largely incurable.
This report provides information on the therapeutic development for Mucopolysaccharidosis III (MPS III) (Sanfilippo Syndrome), complete with latest updates, and special features on late-stage and discontinued projects.
NEW YORK, March 9, 2015 /PRNewswire/ -- Summary Global Markets Direct's, 'Mucopolysaccharidosis I (MPS I) (Hurler Syndrome) - Pipeline Review, H1 2015', provides an overview of the Mucopolysaccharidosis I (MPS I) (Hurler Syndrome)'s therapeutic pipeline.
BMN 250, a novel fusion of alpha-N-acetyglucosaminidase or NAGLU with a peptide resultant from insulin-like growth factor 2 (IGF2), has been granted orphan drug designation by Food and Drug Administration or FDA for the cure of Sanfilippo Syndrome Type B or Mucopolysaccharidosis IIIB (MPS IIIB) declared BioMarin Pharmaceutical Inc.
Peter Conlin, from Stockton, is backing a Ju-Jitsu night in Hartlepool tonight to raise funds for Mucopolysaccharidosis (MPS), a rare condition that affects his son Ben.
This report provides information on the therapeutic development for Mucopolysaccharidosis I (MPS I) (Hurler Syndrome ), complete with latest updates, and special features on late-stage and discontinued projects.

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