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.
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