Shunji Tomatsu, Carlos J Alméciga-Díaz, Hector Barbosa, Adriana M Montaño, Luis A Barrera, Tsutomu Shimada, Eriko Yasuda, William G Mackenzie, Robert W Mason, Yasuyuki Suzuki, Kenji E Orii, Tadao Orii
INTRODUCTION: Morquio A syndrome (mucopolysaccharidosis type IVA, MPS IVA) is one of the lysosomal storage diseases and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme leads to accumulation of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate (C6S). The majority of KS is produced by chondrocytes, and therefore, the undegraded substrates accumulate mainly in cells and extracelluar matrix (ECM) of cartilage...
October 1, 2013: Expert Opinion on Orphan Drugs