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Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?

Karolina WiśniewskaJakub WolskiMagdalena ŻabińskaAneta SzulcLidia GaffkeKarolina PierzynowskaGrzegorz Wegrzyn
Published in: Diagnostics (Basel, Switzerland) (2024)
Mucopolysaccharidoses (MPS) comprise a group of 12 metabolic disorders where defects in specific enzyme activities lead to the accumulation of glycosaminoglycans (GAGs) within lysosomes. This classification expands to 13 when considering MPS IIIE. This type of MPS, associated with pathogenic variants in the ARSG gene, has thus far been described only in the context of animal models. However, pathogenic variants in this gene also occur in humans, but are linked to a different disorder, Usher syndrome (USH) type IV, which is sparking increasing debate. This paper gathers, discusses, and summarizes arguments both for and against classifying dysfunctions of arylsulfatase G (due to pathogenic variants in the ARSG gene) in humans as another subtype of MPS, called MPS IIIE. Specific difficulties in diagnostics and the classification of some inherited metabolic diseases are also highlighted and discussed.
Keyphrases
  • copy number
  • genome wide
  • machine learning
  • deep learning
  • endothelial cells
  • genome wide identification
  • gene expression
  • replacement therapy
  • induced pluripotent stem cells
  • pluripotent stem cells