Article
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
Molecular genetics and metabolism - 1 Jan 2000
Hendriksz C J, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance C G, Orii T, Tomatsu S
Abstract excerpt
Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an autosomal recessive lysosomal storage disease. MPS IVA is caused by mutations in the gene encoding the enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Reduced GALNS activity results in impaired catabolism of two glycosaminoglycans (GAGs),...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.