Glycogen storage disease type II laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Overview

Laboratory findings consistent with the diagnosis of glycogen storage disease type 2 (GSD type 2) include elevated CK, elevated CK-MB, elevated LDH, elevated liver aminotransferases, elevated urinary glc 4, and deficiency of α-glucosidase in fibroblasts, leukocytes, and/or in muscle tissue.

Laboratory Findings

  • Laboratory findings consistent with the diagnosis of glycogen storage disease type 2 (GSD type 2) include:[1][2][3][4][3][5][6][7]
    • Elevated CK
      • Infantile onset GSD type 2 has greatest elevation (up to 2000 UI/L)
      • Late onset GSD type 2 has CK elevation of 1.5 to 15 times the upper limit
    • Elevated CK-MB
    • Elevated LDH
    • Elevated AST
    • Elevated ALT
    • Elevated urinary glc 4
    • Deficiency of α-glucosidase in fibroblasts, leukocytes, and/or in muscle tissue

References

  1. van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT; et al. (2003). "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature". Pediatrics. 112 (2): 332–40. PMID 12897283.
  2. Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ; et al. (2005). "The natural course of non-classic Pompe's disease; a review of 225 published cases". J Neurol. 252 (8): 875–84. doi:10.1007/s00415-005-0922-9. PMID 16133732.
  3. 3.0 3.1 Ausems MG, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJ, Wokke JH (1999). "A diagnostic protocol for adult-onset glycogen storage disease type II". Neurology. 52 (4): 851–3. PMID 10078739.
  4. Di Fiore MT, Manfredi R, Marri L, Zucchini A, Azzaroli L, Manfredi G (1993). "Elevation of transaminases as an early sign of late-onset glycogenosis type II". Eur J Pediatr. 152 (9): 784. PMID 8223821.
  5. ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ; et al. (2006). "Pompe disease diagnosis and management guideline". Genet Med. 8 (5): 267–88. doi:10.109701.gim.0000218152.87434.f3 Check |doi= value (help). PMC 3110959. PMID 16702877.
  6. An Y, Young SP, Hillman SL, Van Hove JL, Chen YT, Millington DS (2000). "Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease". Anal Biochem. 287 (1): 136–43. doi:10.1006/abio.2000.4838. PMID 11078593.
  7. Young SP, Stevens RD, An Y, Chen YT, Millington DS (2003). "Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry". Anal Biochem. 316 (2): 175–80. PMID 12711338.



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