mucopolysaccharidosis VI

(redirected from N-acetylgalactosamine-4-sulfatase)

mucopolysaccharidosis VI

Maroteaux-Lamy syndrome; MPS due to a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase. Clinically, MPS VI is similar to MPS IH, except intelligence is normal.


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 ?
INTRODUCTION: Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome, MPS VI) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (Arylsulfatase B, ARSB) gene, resulting in the accumulation of glycosaminoglycans (GAGs) in cells and tissues all over the body.
Such assays have been developed for N-acetylgalactosamine-4-sulfatase (deficient in MPS VI) (43) and acid a-glucosidase (59), enabling successful diagnosis in dried blood spots, without the problems associated with unrelated enzyme activities.
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients.
Recombinant human N-acetylgalactosamine-4-sulfatase was expressed in Chinese hamster ovary cells (22), purified by monoclonal antibody affinity chromatography (13), and stored at 4[degrees]C before use.

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