Maroteaux-Lamy syndrome

VI (Maroteaux-Lamy syndrome) are very rare, and both are associated with urinary excretion of large amounts of dermatan sulfate, although the diseases differ in their clinical manifestations.389 Other forms of this disease that are, at present, unclassified are known, in which chondroitin 4-sulfate is excreted in excessive amounts in the urine.409,410 It is reasonable to suppose that other glycosidase deficiencies may be found to underlie other genetically acquired diseases that involve glycoproteins. 

Maroteaux-Lamy syndrome) 4-sulphatase joint stiffness, visceromegaly, cardiac disease, comeal clouding... 

Maroteaux-Lamy syndrome (type VI) This syndrome is due to an arylsulphatase B deficiency. It appears in a severe or moderate form (P. Maroteaux et al., 1965). 

Stepwise degradation of dermatan sulfate. The deficiency diseases corresponding to the numbered reactions are 1 = MPS II, Hunter s syndrome 2 = MPS I, Hurler s, Scheie s, and Hurler-Scheie s syndromes 3 = MPS VI, Maroteaux-Lamy syndrome 4 = Sandhoff s disease and 5 = MPS VII, Sly s syndrome. This schematic drawing depicts all structures known to occur within dermatan sulfate and does not imply that they occur in equal proportion. For instance, only a few of the L-iduronic acid residues are sulfated, and L-iduronic acid occurs much more frequently than glucuronic acid. [Reproduced with permission from E. F. Neufeld and J. Muenzer. In Metabolic Basis of Inherited Disease, 7th ed., C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (Eds). McGraw-Hill, New York, 1995, p. 2467,]... 

Fluharty, A. L., Stevens, R. L., Fung, D., Peak, S., and Kihara, H., UDP-N-Acetylgalac-tosamine 4-suUate sulfohydrolase activity of human arylsulfatase B and its deficiency in Maroteaux-Lamy syndrome. Biochem. Biophys. Res. Commun. 64, 955-962 (1975). 

Shapira, E., Degregorio, R. R., Matalon, R., and Nadler, H. L., Reduced arylsulfetase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome. Biochem. Biophys. Res. Common. 62, 448-455 (1975). 

Type VI A Maroteaux-Lamy syndrome, classic form Severe osseous and comeal change, normal intellect Homozygous for M-L gene Dermatan sulfate Compound isolated but not yet... 

Type VI B Maroteaux-Lamy syndrome, mild form Severe osseous and corneal change, normal intellect Homozygous for allele at M-L locus Dermatan sulfate identified... 

Urine from patients with the Maroteaux-Lamy syndrome contains excessive amounts of dermatan sulfate (M8), but partially on account of the comparatively recent recognition of this disease, chemical studies have not been conducted. 

Type VIVlg, VIq mucopoiysaccharidosis, or Maroteaux-Lamy syndrome (see Fig. 2). 

The Maroteaux-Lamy syndrome is characterized by its Hurler-like features with normal intelligence. Skeletal abnormalities, corneal clouding, and joint stiffness are apparent at an early age. The disease is usually recognized in the third or fourth year of life. Clinically, there is a severe form and a mild form of the disease. Dermatan sulfate is the predominant species of glycosaminoglycan found in increased quantities in the urine of patients. The prevalence of Maroteaux-Lamy syndrome is estimated at 1 in 235,000 [5]. 

In general, patients with milder or no neurological involvement will have a better outcome with bone marrow transplantation. Patients with Maroteaux-Lamy syndrome, mucopolysaccharidosis, type VI, have a mild to no neurological involvement. Therefore, bone marrow transplantation has been shown to be an effective therapy for these patients [12]. 

Krivit, W, Pierpont, M.E., Ayaz, K., Tsai, M., Ramsay, N. K., Kersey, J. H., Weisdorf, S., Sibley, R., Snover, D., McGovern, M. M. (1984) Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) biochemical and clinical status 24 months after transplantation. N. Eng. J. Med. 311, 1606-1611. 

The level of jS-D-glucuronidase activity in human-skin fibroblasts from patients with Maroteaux-Lamy syndrome has been shown to be normal. The activities and properties of )3-D-glucuronidase in embryonic human-lung (diploid Wl-38) fibroblasts have been reported. ... 

Skin fibroblasts obtained from patients with Maroteaux-Lamy syndrome exhibited normal levels of a-L-iduronidase activity. ... 

Acetamido-2-deoxy-i>-galactose 4-Sulphate Sulphatases.—Extracts of skin fibroblasts obtained from patients with Maroteaux-Lamy syndrome exhibited a marked reduction in 2-acetamido-2-deoxy-D-galactose 4-sulphate sulphatase activity towards chondroitin 4-[ S]sulphate and a heptasaccharide derived therefrom. ... 

A purified 2-acetamido-2-deoxy-D-galactose 4-sulphate sulphatase from human placenta has been shown to be identical with an arylsulphatase B from the same source. The levels of the two enzymes were compared in cases of Maroteaux-Lamy syndrome. UDP-2-Acetamido-2-deoxy-D-galactose 4-sulphate is the natural substrate for the former sulphatase. 

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