scholarly journals Morquio’s Syndrome: A Case Report of Two Siblings

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Sathish Muthukumar Ramalingam ◽  
Daya Srinivasan ◽  
Sandhya ArunKumar ◽  
Joe Louis ChiriyanKandath ◽  
Sriram Kaliamoorthy
Keyword(s):  
Storage Disease ◽  
Mucopolysaccharidosis Type ◽  
Lysosomal Storage ◽  
Enamel Hypoplasia ◽  
Rare Type ◽  
Diagnostic Aid ◽  
Mps Iva ◽  
Morquio Syndrome ◽  
Mucopolysaccharidosis Type Iva ◽  
Morquio's Syndrome

Morquio syndrome or MPS IVA is a rare type of lysosomal storage disease associated with highly specific dental abnormalities. We present two siblings with enamel hypoplasia and skeletal abnormalities. A diagnosis of mucopolysaccharidosis type IVA was reached based on the clinical, radiographic, and dental findings of the patients. The dental findings are useful diagnostic aid for the early diagnosis of this debilitating disorder.

scholarly journals Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA

2020 ◽  
Vol 22 (1) ◽  
pp. 226
Author(s):  
Víctor J. Álvarez ◽  
Susana B. Bravo ◽  
Maria Pilar Chantada-Vazquez ◽  
Cristóbal Colón ◽  
María J. De Castro ◽  
...  
Keyword(s):  
Keratan Sulfate ◽  
Bone Lesions ◽  
Mucopolysaccharidosis Type ◽  
Lysosomal Storage ◽  
Protein Biomarkers ◽  
Enzyme Replacement ◽  
Endurance Tests ◽  
Mps Iva ◽  
Mucopolysaccharidosis Type Iva ◽  
Potential Biomarkers

Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. Skeletal dysplasia and the related clinical features of MPS IVA are caused by disruption of the cartilage and its extracellular matrix, leading to a growth imbalance. Enzyme replacement therapy (ERT) with recombinant human GALNS has yielded positive results in activity of daily living and endurance tests. However, no data have demonstrated improvements in bone lesions and bone grow thin MPS IVA after ERT, and there is no correlation between therapeutic efficacy and urine levels of keratan sulfate, which accumulates in MPS IVA patients. Using qualitative and quantitative proteomics approaches, we analyzed leukocyte samples from healthy controls (n = 6) and from untreated (n = 5) and ERT-treated (n = 8, sampled before and after treatment) MPS IVA patients to identify potential biomarkers of disease. Out of 690 proteins identified in leukocytes, we selected a group of proteins that were dysregulated in MPS IVA patients with ERT. From these, we identified four potential protein biomarkers, all of which may influence bone and cartilage metabolism: lactotransferrin, coronin 1A, neutral alpha-glucosidase AB, and vitronectin. Further studies of cartilage and bone alterations in MPS IVA will be required to verify the validity of these proteins as potential biomarkers of MPS IVA.

scholarly journals Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Joan Bertolin ◽  
Víctor Sánchez ◽  
Albert Ribera ◽  
Maria Luisa Jaén ◽  
Miquel Garcia ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Viral Vector ◽  
Keratan Sulfate ◽  
Whole Body ◽  
Mucopolysaccharidosis Type ◽  
Lysosomal Storage ◽  
Peripheral Tissues ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Mucopolysaccharidosis Type Iva

AbstractMucopolysaccharidosis type IVA (MPSIVA) or Morquio A disease, a lysosomal storage disorder, is caused by N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency, resulting in keratan sulfate (KS) and chondroitin-6-sulfate accumulation. Patients develop severe skeletal dysplasia, early cartilage deterioration and life-threatening heart and tracheal complications. There is no cure and enzyme replacement therapy cannot correct skeletal abnormalities. Here, using CRISPR/Cas9 technology, we generate the first MPSIVA rat model recapitulating all skeletal and non-skeletal alterations experienced by patients. Treatment of MPSIVA rats with adeno-associated viral vector serotype 9 encoding Galns (AAV9-Galns) results in widespread transduction of bones, cartilage and peripheral tissues. This led to long-term (1 year) increase of GALNS activity and whole-body correction of KS levels, thus preventing body size reduction and severe alterations of bones, teeth, joints, trachea and heart. This study demonstrates the potential of AAV9-Galns gene therapy to correct the disabling MPSIVA pathology, providing strong rationale for future clinical translation to MPSIVA patients.

scholarly journals Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems

2019 ◽  
Vol 20 (18) ◽  
pp. 4610 ◽  
Author(s):  
J. Víctor Álvarez ◽  
Susana B. Bravo ◽  
María García-Vence ◽  
María J. De Castro ◽  
Asteria Luzardo ◽  
...  
Keyword(s):  
Replacement Therapy ◽  
Delivery System ◽  
Skeletal Dysplasia ◽  
Cellular Protein ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Morquio A ◽  
Mps Iva ◽  
Mucopolysaccharidosis Type Iva

Morquio A syndrome, or mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disease due to mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. Systemic skeletal dysplasia and the related clinical features of MPS IVA are due to disruption of cartilage and its extracellular matrix, leading to an imbalance of growth. Enzyme replacement therapy (ERT) with recombinant human GALNS, alpha elosulfase, provides a systemic treatment. However, this therapy has a limited impact on skeletal dysplasia because the infused enzyme cannot penetrate cartilage and bone. Therefore, an alternative therapeutic approach to reach the cartilage is an unmet challenge. We have developed a new drug delivery system based on a nanostructure lipid carrier with the capacity to immobilize enzymes used for ERT and to target the lysosomes. This study aimed to assess the effect of the encapsulated enzyme in this new delivery system, using in vitro proteomic technology. We found a greater internalization of the enzyme carried by nanoparticles inside the cells and an improvement of cellular protein routes previously impaired by the disease, compared with conventional ERT. This is the first qualitative and quantitative proteomic assay that demonstrates the advantages of a new delivery system to improve the MPS IVA ERT.

Molecular basis of mucopolysaccharidosis type IVA (Morquio syndrome type A): A review and classification of gene variants and reporting of new variants

2021 ◽  
Vol 132 (2) ◽  
pp. S101
Author(s):  
Akashdeep Singh ◽  
Alessandra Zanetti ◽  
Amelia Morrone ◽  
Moeenaldeen Al-Sayed ◽  
Ana Carolina Brusius-Facchin ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Type A ◽  
Gene Variants ◽  
Syndrome Type ◽  
Mucopolysaccharidosis Type ◽  
Morquio Syndrome ◽  
Mucopolysaccharidosis Type Iva

Bone health in mucopolysaccharidosis type IVA (Morquio syndrome)

2014 ◽  
Vol 111 (2) ◽  
pp. S78
Author(s):  
John Mitchell ◽  
Mouna Ben Amor ◽  
Louis-Nicholas Veilleux ◽  
Jason Steinmetz ◽  
Frank Rauch
Keyword(s):  
Bone Health ◽  
Mucopolysaccharidosis Type ◽  
Morquio Syndrome ◽  
Mucopolysaccharidosis Type Iva
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