Morquio A syndrome, also called mucopolysaccharidosis IVA (MPS IVA), is an inherited lysosomal storage disorder caused by deficient N-acetylgalactosamine-6-sulfatase activity from pathogenic variants in GALNS.[1][2] The disease is classically known for skeletal and connective-tissue manifestations, but it is also relevant to NeuroWiki because it exemplifies how lysosomal failure perturbs multisystem biology and neurologic function.
Morquio A is a useful disease anchor for links from lysosomal, extracellular-matrix, and metabolic pages.[1:1][2:1] It also resolves the common legacy alias MPS IVA into a single canonical disease target.
GALNS mutations in Morquio A. Human Molecular Genetics (2000). ↩︎ ↩︎
Morquio A natural history. American Journal of Medical Genetics Part A (2007). ↩︎ ↩︎