Sacral dimple : incidental findings from newborn evaluation ( Discussion and Diagnosis )

The Case Presentation can be found on page 768. DISCUSSION Mucopolysaccharidosis type IVA (MPS IVA, Morquio A syndrome, OMIM#253000) is an autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, N-acetylgalactosamine 6-sulfate sulfatase (GALNS, E.C.3.1.6.4). GALNS catalyzes the degradation of glycosaminoglycans (GAGs), keratan sulfate… CONTINUE READING