Table 2.

Other Mucopolysaccharidoses to Consider in the Differential Diagnosis of Mucopolysaccharidosis IVA

DisorderGene(s)MOIBiochemical DeficiencyComment
MPS I IDUA ARα-L-iduronidaseSigns & symptoms of MPS IVA overlap w/other MPSs, all of which have a broad spectrum of clinical manifestations. MPS IVA is distinguished from other MPSs by:
  • Normal intellect
  • Less coarsening of facial features
  • Better visual acuity (in general)
  • Joint hypermobility (unique to MPS IV)
  • More common occurrence of atlantoaxial instability
MPS II IDS XLIduronate-2-sulfatase
MPS III MPS IIIA: SGSHARN-sulphoglucosamine sulphohydrolase
MPS IIIB: NAGLUAlpha-N-acetylglucosaminidase
MPS IIIC: HGSNATHeparan-alpha-glucosaminide N-acetyltransferase
MPS IIID: GNSN-acetylglucosamine-6-sulfatase
MPS VI (OMIM 253200) ARSB ARGalactosamine-4-sulfatase
MPS VII GUSB ARβ-D-glucuronidase

AR = autosomal recessive; MOI = mode of inheritance; MPS = mucopolysaccharidosis; XL = X-linked

From: Mucopolysaccharidosis Type IVA

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