Abstract:Mucopolysaccharidosis IV type B, or Morquio B disease (MBD), is an autosomal recessive disorder caused by a genetic mutation in GLB1 gene encoding for β-galactosidase on chromosome 3p22.33. β-galactosidase deficiency can result in two different conditions, GM1 gangliosidosis and MBD, of which MBD has a milder phenotype and presents later in life with keratan sulfate accumulation in the retina and cartilage. In this case report, we present a patient diagnosed with MBD at the age of 5 after initially presenting … Show more
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