mucopolysaccharidosis type IVB

info · Genetic · ICD-10: E76.211

A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3.

Signs and symptoms

Hypoplasia of the odontoid process
Coarse facial features
Dysostosis multiplex
Mitral regurgitation
Aortic valve stenosis
Opacification of the corneal stroma
Constricted iliac wing
Hearing impairment
Grayish enamel
Intimal thickening in the coronary arteries

Medications that may treat it

elosulfase alfa

Also known as: MPS IVB; MPS4B; Morquio disease type B; Morquio syndrome B; beta-D-galactosidase deficiency