2011
DOI: 10.2174/138920111795542615
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Mucopolysaccharidosis Type IVA (Morquio A Disease): Clinical Review and Current Treatment: A Special Review

Abstract: Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A, is a rare, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme N-acetylgalatosamine-6-sulfate-sulfatase (GALNS), which catalyzes a step in the catabolism of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate (C6S). It leads to accumulation of the KS and C6S, mainly in bone and cornea, causing a systemic skeletal chondrodysplasia. MPS IVA has a variable age of onset and variable rate of progression. Comm… Show more

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Cited by 200 publications
(309 citation statements)
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“…Respiratory function is further compromised by chest wall deformities and displacement of the diaphragm due to short stature coupled with hepatosplenomegaly (Hendriksz et al 2013). Atlantoaxial instability and spinal cord compression may also result in respiratory muscle weakness (Tomatsu et al 2011;Hendriksz et al 2013). Owing to these changes, patients with Morquio syndrome A may experience recurrent infections, progressive loss of pulmonary function and, ultimately, respiratory failure (Montaño et al 2007;Pelley et al 2007;Tomatsu et al 2011;Hendriksz et al 2013).…”
Section: Introductionmentioning
confidence: 99%
“…Respiratory function is further compromised by chest wall deformities and displacement of the diaphragm due to short stature coupled with hepatosplenomegaly (Hendriksz et al 2013). Atlantoaxial instability and spinal cord compression may also result in respiratory muscle weakness (Tomatsu et al 2011;Hendriksz et al 2013). Owing to these changes, patients with Morquio syndrome A may experience recurrent infections, progressive loss of pulmonary function and, ultimately, respiratory failure (Montaño et al 2007;Pelley et al 2007;Tomatsu et al 2011;Hendriksz et al 2013).…”
Section: Introductionmentioning
confidence: 99%
“…Bone deformity is the most common initial manifestation [10,11] of skeletal dysplasia. Additional compromised systems include visual, auditory, cardiovascular, and respiratory system [12].…”
Section: Introductionmentioning
confidence: 99%
“…Onset of disease symptoms commonly occurs prior to 1 year of age in severely affected patients or as late as the second decade of life in less severely affected patients [10]. Diagnosis is typically based on clinical examination, skeletal radiographs, and the enzymatic activity of GALNS in blood cells or fibroblasts [10,11].…”
Section: Introductionmentioning
confidence: 99%
“…SM is characterized by severe osseous deformities and extra skeletal changes, such as corneal opacity, hepatomegaly, cardiac valve lesions, prognatism, diastema, thinning tooth enamel, and auditory changes that vary from conductive to sensorineural dysacusis. (Montaño et al, 2007;Couprie et al, 2010;Leal et al, 2010;Tomatsu et al, 2011;Hendriksz et al, 2013).…”
Section: Introductionmentioning
confidence: 99%
“…However, the correlation between genotypes and phenotypes is not yet clearly understood (Tomatsu et al, 2011;Rivera-Colón et al, 2012;Pajares et al, 2012;Kubaski et al, 2013).…”
Section: Introductionmentioning
confidence: 99%