Mucopolysaccharidosis type IVA (morquio syndrome): A clinical review

1996 ◽  
Vol 19 (3) ◽  
pp. 357-365 ◽  
Author(s):  
H. Northover ◽  
R. A. Cowie ◽  
J. E. Wraith
Keyword(s):  
Clinical Review ◽  
Mucopolysaccharidosis Type ◽  
Morquio Syndrome ◽  
Morquio Syndrome A ◽  
Mucopolysaccharidosis Type Iva

scholarly journals A 16-year-old Girl with Morquio Syndrome: A Case Report

2018 ◽  
Vol 8 (3) ◽  
pp. 266-269
Author(s):  
AKM Motiur Rahman Bhuiyan ◽  
Maftahul Jannat ◽  
Md Zilan Miah Sarker ◽  
Mohammad Tanvir Islam ◽  
Amit Roy Chowdhury
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Consanguineous Marriage ◽  
Mucopolysaccharidosis Type ◽  
Skeletal Deformity ◽  
Type Iv ◽  
Morquio Syndrome ◽  
Radiological Changes ◽  
Morquio Syndrome A ◽  
Medical University

Morquio syndrome is a rare autosomal recessive disorder of mucopolysaccharide metabolism, also called mucopolysaccharidosis type IV. We report a case of Morquio syndrome in a16-year- old girl of normal intelligence, who got herself admitted in Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. The patient had short stature and skeletal deformity and she belonged to a non-consanguineous marriage of her parents. She was diagnosed on the basis of clinical features, typical radiological changes and positive urinary mucopolysaccharide screening test.Birdem Med J 2018; 8(3): 266-269

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

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.

Mucopolysaccharidosis Type IVA (Morquio A Disease): Clinical Review and Current Treatment: A Special Review

2011 ◽  
Vol 12 (6) ◽  
pp. 931-945 ◽  
Author(s):  
S. Tomatsu ◽  
A. M. Montano ◽  
H. Oikawa ◽  
Daniel J. Rowan ◽  
M. Smith ◽  
...  
Keyword(s):  
Clinical Review ◽  
Current Treatment ◽  
Mucopolysaccharidosis Type ◽  
Morquio A ◽  
Special Review ◽  
Mucopolysaccharidosis Type Iva

scholarly journals Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome)

2016 ◽  
Vol 13 (2) ◽  
pp. 88 ◽  
Author(s):  
Ali Al Kaissi ◽  
Vladimir Kenis ◽  
Eugeniy Melchenko ◽  
MaherBen Ghachem ◽  
Robert Csepan ◽  
...  
Keyword(s):  
Lower Limb ◽  
Mucopolysaccharidosis Type ◽  
Limb Deformities ◽  
Morquio Syndrome ◽  
Mucopolysaccharidosis Type Iva

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.

Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA

2013 ◽  
Vol 108 (2) ◽  
pp. S59-S60
Author(s):  
Sandra Leistner-Segal ◽  
Francyne Kubaski ◽  
Ana Carolina Brusius-Facchin ◽  
Heloísa M.C. Palhares ◽  
Marly Aparecida Spadotto Balarin ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Severe Form ◽  
Mucopolysaccharidosis Type ◽  
Brazilian Patient ◽  
Mucopolysaccharidosis Type Iva
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