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MUCOPOLYSACCHARIDOSIS I, II, AND VI BRIEF REVIEW AND GUIDELINES FOR TREATMENT
Hurler Syndrome
Hunter Syndrome
Maroteaux-Lamy Syndrome
Enzyme Replacement Therapy
Treatment Guidelines
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Abstract
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes
involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of
GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including
cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow
transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted
its use to selected cases. The identification of the genes involved, the new molecular biology tools and the
availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases.
At present, a great number of Brazilian medical centers from all regions of the country have experience with
ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types
of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience
of the professionals involved, along with the data available in the international literature, bringing together and
harmonizing the information available on the management of these severe and progressive diseases, thus disclosing
new prospects for Brazilian patients affected by these conditions.
Keywords
MucopolisaccharidosesHurler Syndrome
Hunter Syndrome
Maroteaux-Lamy Syndrome
Enzyme Replacement Therapy
Treatment Guidelines
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