Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Bone and Bones
/ metabolism
Cartilage
/ metabolism
Chondroitin Sulfates
/ metabolism
Disease Management
Early Diagnosis
Enzyme Replacement Therapy
/ methods
Genetic Therapy
/ methods
Glycosaminoglycans
/ metabolism
Hematopoietic Stem Cell Transplantation
/ methods
Humans
Keratan Sulfate
/ metabolism
Lysosomes
/ metabolism
Mucopolysaccharidosis III
/ genetics
Mucopolysaccharidosis IV
/ diagnosis
Nanomedicine
Osteochondrodysplasias
Quality of Life
GALNS
LC-MS/MS
MPS IVA
bone-targeting
keratan sulfate
skeletal dysplasia
tracheal reconstructive surgery
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
23 Feb 2020
23 Feb 2020
Historique:
received:
30
01
2020
revised:
15
02
2020
accepted:
19
02
2020
entrez:
28
2
2020
pubmed:
28
2
2020
medline:
15
12
2020
Statut:
epublish
Résumé
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. The deficiency of this enzyme accumulates the specific glycosaminoglycans (GAG), keratan sulfate, and chondroitin-6-sulfate mainly in bone, cartilage, and its extracellular matrix. GAG accumulation in these lesions leads to unique skeletal dysplasia in MPS IVA patients. Clinical, radiographic, and biochemical tests are needed to complete the diagnosis of MPS IVA since some clinical characteristics in MPS IVA are overlapped with other disorders. Early and accurate diagnosis is vital to optimizing patient management, which provides a better quality of life and prolonged life-time in MPS IVA patients. Currently, enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) are available for patients with MPS IVA. However, ERT and HSCT do not have enough impact on bone and cartilage lesions in patients with MPS IVA. Penetrating the deficient enzyme into an avascular lesion remains an unmet challenge, and several innovative therapies are under development in a preclinical study. In this review article, we comprehensively describe the current diagnosis, treatment, and management for MPS IVA. We also illustrate developing future therapies focused on the improvement of skeletal dysplasia in MPS IVA.
Identifiants
pubmed: 32102177
pii: ijms21041517
doi: 10.3390/ijms21041517
pmc: PMC7073202
pii:
doi:
Substances chimiques
Glycosaminoglycans
0
Chondroitin Sulfates
9007-28-7
Keratan Sulfate
9056-36-4
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NA
ID : NA
Organisme : National MPS Society Research Grant, Austrian MPS society, The Carol Ann Foundation, Deborah McClellan and Brant Cali Foundation, The Radiant Hope donation, Angelo R. Cali & Mary V. Cali Family Foundation, Inc., The Vain and Harry Fish Foundation, Inc., T
ID : NA
Organisme : an Institutional Development Award (IDeA) from the National Institute of General Medical Sciences
ID : P30GM114736
Organisme : Foundation for the National Institutes of Health
ID : P30GM114736
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