Historical Perspective of MPS VI

MPS VI was first described in 1963 by Maroteaux, Lamy et al in a 13-year-old male with a novel dysostosis. The individual's presenting signs and symptoms included extreme short stature, dysmorphic facial features, corneal opacities, short neck, hepatosplenomegaly, and skeletal abnormalities of the trunk and limbs. These findings appeared to be consistent with a diagnosis of Hurler syndrome (severe MPS I). However, the individual was found to have normal intelligence. In addition, laboratory analyses revealed elevated urinary dermatan sulfate excretion in the absence of elevated heparan sulfate. These findings were not consistent with Hurler syndrome, leading the physicians to propose the existence of a newly identified disorder-the disorder which eventually came to be known as MPS VI. Based on the patient's family history, which included 2 unaffected parents, Maroteaux and Lamy proposed an autosomal recessive mode of inheritance.¹

In 1972, an inherited deficiency in arylsulfatase B (ASB) was identified as the biochemical defect underlying MPS VI.² The ASB gene locus has been mapped to chromosome 5 and to date, at least 45 different mutations in the ASB gene that are associated with MPS VI have been identified.^3,4

1. Maroteaux P, Leveque B, Marie J, Lamy M. [A new dysostosis with urinary elimination of chondroitin sulfate B]. Presse Med. 1963;71:1849-1852. French.
2. Baron RW, Neufeld EF. A distinct biochemical deficit in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI). J Pediatr. 1972;80:114-116.
3. Litjens T, Baker EG, Beckmann KR, et al. Chromosomal localization of ARSB, the gene for human Nacetylgalactosamine- 4-sulphatase. Hum Genet. 1989;82:67-68.
4. Litjens T, Hopwood JJ. Mucopolysaccharidosis type VI: structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum Mutat. 2001;18:282-295. Review.