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5C56.32 Mucopolysaccharidosis type 4

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two clinically indistinguishable forms, A and B. A deficiency in one of the two enzymes required for the degradation of keratan sulfate (KS) is responsible for the MPS IV subtypes: N-acetylgalactosamine-6-sulfate sulfatase in MPS IVA, and beta-D-galactosidase in MPS IVB.

synonyms

• Mucopolysaccharidosis type 4
• Galactosamine-6-sulfatase deficiency
• Morquio syndrome
• Morquio-Brailsford disease
• Mucopolysaccharidosis type 4A
• Galactose-6-sulfatase deficiency
• Galactosamide-6-sulfatase deficiency
• Morquio syndrome type A
• Mucopolysaccharidosis type 4B
• Beta-D-galactosidase deficiency
• Morquio syndrome type B

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