ICD-11 classes
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2E — Syndromes with structural anomalies due to inborn errors of...
5C56.3 — Mucopolysaccharidosis
5C56.32 — Mucopolysaccharidosis type 4

ICD-11 5C56.32 — Mucopolysaccharidosis type 4

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.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.

The diagnosis is coded elsewhere:

• Mucopolysaccharidosis #4889