mucopolysaccharidosis (redirected from Mucopolysaccharidosis type VI Maroteaux-Lamy - severe, intermediate)

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.

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mu·co·pol·y·sac·cha·ri·do·sis (myk-pl-sk-r-dss)

n.

Any of several inherited diseases of mucopolysaccharide metabolism characterized by the accumulation of mucopolysaccharides in the tissues and their excretion in urine, resulting in various defects of bone, cartilage, and connective tissue.

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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).

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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.

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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.

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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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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.