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. 2016 Dec 17;4(4):40. doi: 10.3390/diseases4040040

Table 2.

Classification of biomarkers according to the nature of origin.

LSD Biomarkers
Accumulated Substrate Indirect Products
Fabry disease Globotriaosylceramide (Gb3)
  • -

    Globotriaosylsphingosine (LysoGb3)

  • -

    LysoGb3 analogs

  • -

    Methylated/non-methylated Gb3 isoforms
Gaucher disease Glucosylceramide
  • -

    Chitotriosidase (ChT)

  • -

    Pulmonary and activation-regulated chemokine (CCL18/PARC)

  • -

    Macrophage inflammatory protein 1-alpha and 1-beta (MIP-1α and MIP-1β)

  • -

    Cathepsin K

  • -

    Ganglioside GM3/monosialodihexosylganglioside

  • -

    Glucosylsphingosine

  • -

    Osteopontin
Krabbe disease Galactosylceramide
  • -

    Galactosylsphingosine/psychosine
Mucopolysaccharidoses Dermatan sulfate
Heparan sulfate
Keratan sulfate
Chondroitin-6-sulfate
Chondroitin-4,6-sulfate
Hyaluronic acid
  • -

    Glycosaminoglycan fragments

  • -

    Others: β-galactosidase, Collagen Iα, fatty-acid-binding-protein 5, nidogen-1, cartilage oligomeric matrix protein, and insulin-like growth factor binding protein 7, Protein HEG1
Niemann–Pick disease Sphingomyelin
Free cholesterol (in fibroblasts)
  • -

    Lysosphingomyelin (Lyso-SPM)

  • -

    Cholestane-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC)

  • -

    24(S)-hydroxycholesterol

  • -

    NPCBA1 (3β-hydroxy,7β-N-acetylglucosaminyl-5-cholenoic acid) and NPCBA2 (probably 3β,5α,6β-trihydroxycholanoyl-glycine)

  • -

    Calbindin D

  • -

    Lyso-sphingomyelin-509
Pompe disease Glycogen
  • -

    Tetrasaccharide glucose (Glc4)

  • -

    Myostatin

  • -

    Insulin-like growth factor-I (IGF-I)