[Morquio's disease].

Rev Chil Pediatr

Published: October 1966

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Hearing loss in patients with Morquio A syndrome: A scoping review.

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.

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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.

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Article Synopsis
  • Mucopolysaccharidosis type I (MPS I) is a rare condition caused by a deficiency in the enzyme α-L-iduronidase (IDUA), leading to the buildup of glycosaminoglycans and various health issues.
  • Current treatments like stem cell transplants and enzyme replacement often fall short in addressing all patient symptoms.
  • In a study with MPS I mice, administering a specific viral vector (RGX-111) at a minimal dose of 10 vector genomes showed significant metabolic improvement and reduced severe symptoms, suggesting a promising approach for human therapy.
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 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.

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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.

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