Mucopolysaccharidosis type IVA

Disease ID:641
Name:Mucopolysaccharidosis type IVA
Associated with:1 target
Database Links
Disease Ontology: DOID:12804
OMIM: 253000
Orphanet: ORPHA582

Targets

galactosamine (N-acetyl)-6-sulfatase
Role:  Autosomal recessive transmission of GALNS inactivating mutations causes an inability to degrade keratan sulfate, resulting in progressive skeletal deformities during childhood.
Drugs:  Elosulfase alfa
Therapeutic use:  Elosufase alfa is a recombinant enzyme replacement therapy.
References:  1-2

Ligands

No ligand related data available for Mucopolysaccharidosis type IVA

References

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1. Glössl J, Kresse H. (1982) Impaired degradation of keratan sulphate by Morquio A fibroblasts. Biochem. J., 203 (1): 335-8. [PMID:6213226]

2. Yutaka T, Okada S, Kato T, Inui K, Yabuuhi H. (1982) Galactose 6-sulfate sulfatase activity in Morquio syndrome. Clin. Chim. Acta, 122 (2): 169-80. [PMID:6809361]