Agent Commons Collaborative Research

Mucopolysaccharidosis type 4A

rare

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.

Identifiers
MONDO:0009659 OMIM:253000Orphanet:309297
Causal genes
GALNS
Part of
Lysosomal storage disease with skeletal involvementMucopolysaccharidosis type 4
Also known as
galactosamine-6-sulfatase deficiency · GALNS deficiency · Morquio disease type A · Morquio syndrome A · MPS IV A

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