Download full-text PDF |
Source |
---|
Medicine (Baltimore)
January 2025
Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Iccesi, Cali, Colombia.
Background: Hearing impairment is a prevalent clinical feature in Morquio syndrome (mucopolysaccharidosis IVA or MPS IVA) patients, often presenting in diverse forms: conductive, sensorineural, or a combination known as mixed hearing loss. The mixed form entails a blend of both conductive and sensorineural elements, typically exhibiting a progressive trajectory. This scoping review aimed to comprehensively analyze available evidence pertaining to the pathophysiology, classification, epidemiology, and clinical management of hearing loss in individuals with MPS IVA.
View Article and Find Full Text PDFFront Biosci (Landmark Ed)
December 2024
Department of Molecular Biology, Faculty of Biology, University of Gdansk, 80-308 Gdansk, Poland.
Background: Mucopolysaccharidosis (MPS) is a class of hereditary metabolic diseases that demonstrate itself by accumulating incompletely degraded glycosaminoglycans (GAGs). MPS are classified according to the kind(s) of stored GAG(s) and specific genetic/enzymatic defects. Despite the accumulation of the same type of GAG, two MPS diseases, Sanfilippo (MPS III) and Morquio (MPS IV), are further distinguished into subclasses based on different enzymes that are deficient.
View Article and Find Full Text PDFMol Ther Methods Clin Dev
December 2024
Center for Genome Engineering, Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN, USA.
Rev Bras Ortop (Sao Paulo)
October 2024
Universidade Federal de Pernambuco, Recife, PE, Brasil.
This study evaluated and determined, through instrumented three-dimensional (3D) gait analysis, the kinetic, kinematic, and electromyographic profile of patients with mucopolysaccharidosis (MPS) IV and VI. This crossectional study included 11 patients treated at a rare diseases reference service and evaluated in a movement analysis laboratory. We collected clinical, physical examination, and kinetic, kinematic, and electromyographic data using a 3D movement system, from June 2020 to January 2021.
View Article and Find Full Text PDFJMIR Res Protoc
November 2024
Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia.
Background: Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is a rare lysosomal storage disease characterized by autosomal recessive inheritance of mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. This leads to a deficiency of the GALNS enzyme, causing the accumulation of glycosaminoglycans in tissues. Morquio A syndrome primarily affects the skeletal system and joints but can also impact various organs, resulting in symptoms such as hearing and vision loss, respiratory issues, spinal cord compression, heart diseases, and hepatomegaly.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!