Article
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
Human mutation - 1 Jun 2009
Feldhammer Matthew, Durand Stéphanie, Mrázová Lenka, Boucher Renée-Myriam, Laframboise Rachel, Steinfeld Robert, Wraith James E, Michelakakis Helen, van Diggelen Otto P, Hrebícek Martin, Kmoch Stanislav, Pshezhetsky Alexey V
Abstract excerpt
Mucopolysaccharidosis (MPS) type IIIC or Sanfilippo syndrome type C is a rare autosomal recessive disorder caused by the deficiency of the lysosomal membrane enzyme, heparan sulfate acetyl-CoA (AcCoA): alpha-glucosaminide N-acetyltransferase (HGSNAT; EC 2.3.1.78), which catalyzes transmembrane acetylation of the terminal glucosamine residues of heparan sulfate prior to their hydrolysis by...
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