Hurler syndrome also known as mucopolysaccharidosis type 1H (MPS-1H) or gargoylism is an autosomal recessive disorder due to defective gene which encodes for enzyme alpha L-iduronidase (IUDA) located on chromosome 4p16.3 (gene encoding protein iduronidase). In the present case, 4-year Down’s child with coarse facial features, hypothyroidism presented umbilical hernia. Clinical diagnosis of was ...

Mucopolysaccharidosis VI is an autosomal recessive lysosomal storage disorder associated with severe disability and premature death. The presence of a mucopolysaccharidosis-like disease in indigenous ethnic groups in Colombia can be inferred from archaeological findings. There are several indigenous patients with mucopolysaccharidosis VI currently receiving enzyme replacement therapy. We discus...