Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management
Identificadores
Identificadores
URI: http://hdl.handle.net/20.500.11940/16698
PMID: 32102177
DOI: 10.3390/ijms21041517
ISSN: 1422-0067
Visualización o descarga de ficheros
Visualización o descarga de ficheros
Fecha de publicación
2020Título de revista
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Tipo de contenido
Journal Article
DeCS
huesos | lisosomas | nanomedicina | tratamiento de sustitución enzimática | glicosaminoglicanos | calidad de vida | terapia genética | mucopolisacaridosis IV | mucopolisacaridosis III | cartílago | sulfatos de condroitina | trasplante de células madre hematopoyéticas | osteocondrodisplasias | diagnóstico precoz | humanos | queratán sulfatoMeSH
Nanomedicine | Glycosaminoglycans | Keratan Sulfate | Enzyme Replacement Therapy | Osteochondrodysplasias | Hematopoietic Stem Cell Transplantation | Quality of Life | Mucopolysaccharidosis III | Bone and Bones | Genetic Therapy | Humans | Lysosomes | Early Diagnosis | Mucopolysaccharidosis IV | Cartilage | Chondroitin SulfatesResumen
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. The deficiency of this enzyme accumulates the specific glycosaminoglycans (GAG), keratan sulfate, and chondroitin-6-sulfate mainly in bone, cartilage, and its extracellular matrix. GAG accumulation in these lesions leads to unique skeletal dysplasia in MPS IVA patients. Clinical, radiographic, and biochemical tests are needed to complete the diagnosis of MPS IVA since some clinical characteristics in MPS IVA are overlapped with other disorders. Early and accurate diagnosis is vital to optimizing patient management, which provides a better quality of life and prolonged life-time in MPS IVA patients. Currently, enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) are available for patients with MPS IVA. However, ERT and HSCT do not have enough impact on bone and cartilage lesions in patients with MPS IVA. Penetrating the deficient enzyme into an avascular lesion remains an unmet challenge, and several innovative therapies are under development in a preclinical study. In this review article, we comprehensively describe the current diagnosis, treatment, and management for MPS IVA. We also illustrate developing future therapies focused on the improvement of skeletal dysplasia in MPS IVA.