Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

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.

Oral manifestations in children with mucopolysaccharidosis

“…Mucopolysaccharidosis (MPS) are a heterogeneous group of genetic disorders that can affect brain, eyes, oral cavity, face and skeleton, among other systems; [1][2][3][4][5][6] they are lysosomal storage disorders caused by deficiency of the enzymes responsible for the degradation of glycosaminoglycans, causing the accumulation of these macromolecules in the lysosome present in various tissues and organs. The intracellular and extracellular accumulation of these non-metabolized substances causes dysfunction in multiple organs and systems.…”

“…The intracellular and extracellular accumulation of these non-metabolized substances causes dysfunction in multiple organs and systems. [1][2][3][4][5][6] Copyright © 2016 MEDICALEXPRESS. This is an open access article distributed under the terms of the creative commons attribution Non-Commercial License (creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non commercial use, distribution and reproduction in any medium, provided the original work is properly cited.…”

Mucopolissacaridose em um cão: relato de caso

“…A MPS é uma doença rara, e os sinais clínicos variam de acordo com a localização do acúmulo e com a enzima que está deficiente, mas usualmente é multissistêmica, progressiva e sem tratamento (Giugliani et al, 2010;Wang et al, 2011). Os sinais clínicos são caracterizados por comprometimento das vias respiratórias, perda auditiva, displasia cardíaca valvular, estenose coronária, retardo mental, aumento dos órgãos devido ao aumento das células causado pelo acúmulo de GAGs, opacificação corneana, defeitos esqueléticos, compressão da medula espinhal e restrição da mobilidade articular (Torres et al, 1997;Wang et al, 2011;Coutinho et al, 2012).…”

Evaluation of grip strength and range of motion of the upper limbs in patients with mucopolysaccharidosis VI

“…3 In the MPS type VI (Maroteaux Lamy Syndrome), the deficient enzyme is the N-acetylgalactosamine-4-sulfatase or arylsufatase B, which is considered as one of the rarest types of MPS 4 in the world and has an incidence of 0.23 for each 100,000 live births. 5 However, in Brazil, the situation is the opposite, with the MPV type VI being one of the most frequent types diagnosed. 4 Apparently, children with MPS are normal at birth, which very much hinders its diagnosis and early treatment.…”