Choroba Maroteaux-Lamy'ego (mukopolisacharydoza typu VI): obraz kliniczny, diagnostyka i leczenie

Mucopolysacharidosis type VI (MPS VI, OMIM 253200), or Maroteaux-Lamy syndrome, is a rare autosomal recessive lysosomal storage disorder. The disease is caused by a deficiency of arylsulfatase B (ARSB, EC 3.1.6.12), an enzyme involved in the metabolism of glycosaminoglycans (GAGs). The accumulation of GAG substrate in cells and tissues results in tissue and organ dysfunction. The disease is associated with a variety of signs and symptoms and a wide variability of progression rates. Because the diagnosis of MPS VI requires diagnostic tests and clinical experience, the disease tends to be diagnosed late, or misdiagnosed. Pediatricians, ophthalmologists, rheumatologists and cardiologists play the most important role in the early diagnosis of milder phenotypes of MPS VI.