Mucopolysaccharidosis VI Maroteaux-Lamy syndrome. Arylsulfatase B-deficient mucopolysaccharidosis in the Siamese cat

M. E. Haskins, P. F. Jezyk, R. J. Desnick, D. F. Patterson

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26 Scopus citations


Mucopolysaccharidosis (MPS) VI (Maroteaux-Lamy syndrome) has been reported in three families of Siamese cats. Affected animals can be identified within a week after birth by the Berry spot test for excessive urinary glycosaminoglycans (GAG), which has been shown to be dermatan sulfate by cellulose acetate electrophoresis. Typical features of the syndrome are evident in animals by 6 weeks of age. These features include a broad flattened face, small ears, diffuse corneal clouding, large forepaws, and pectus excavatum. Affected animals are smaller than normal sex-matched relatives of the same age. Polymorphonuclear leukocytes in peripheral blood smears contain coarse granules that stain metachromatically with toluidine blue. Radiographic features of the disease are progressive epiphyseal dysplasia and bilateral hip subluxation, with eventual degeneration of joints and fusion of cervical vertebrae. Other features, seen in only a few animals, have included cutaneous nodules present over the face and head (which resolved within six weeks) and hind-limb paresis with depressed pain perception and increased extensor tone. Animals with hind-limb paresis retained some voluntary control of hind-limb movement and were not incontinent. Mentation is difficult to assess in animals; however, there have been no indications in any of the affected cats of deficits comparable to those defining mental retardation in man.

Original languageEnglish
Pages (from-to)191-193
Number of pages3
JournalAmerican Journal of Pathology
Issue number2
StatePublished - 1981
Externally publishedYes


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