Glycogen storage disease type II laboratory findings: Difference between revisions
No edit summary |
No edit summary |
||
(2 intermediate revisions by the same user not shown) | |||
Line 1: | Line 1: | ||
__NOTOC__ | __NOTOC__ | ||
{{Glycogen storage disease type II}} | {{Glycogen storage disease type II}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Anmol}} | ||
==Overview== | ==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== | ||
Line 16: | Line 16: | ||
**Elevated [[ALT]] | **Elevated [[ALT]] | ||
**Elevated urinary glc 4 | **Elevated urinary glc 4 | ||
**Deficiency α-glucosidase in [[fibroblasts]], [[leukocytes]], and/or in muscle tissue | **Deficiency of α-glucosidase in [[fibroblasts]], [[leukocytes]], and/or in muscle tissue | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} |
Latest revision as of 19:43, 23 January 2018
Glycogen storage disease type II Microchapters |
Differentiating Glycogen storage disease type II from other Diseases |
---|
Diagnosis |
Treatment |
Case Studies |
Glycogen storage disease type II laboratory findings On the Web |
American Roentgen Ray Society Images of Glycogen storage disease type II laboratory findings |
Glycogen storage disease type II laboratory findings in the news |
Blogs on Glycogen storage disease type II laboratory findings |
Directions to Hospitals Treating Glycogen storage disease type II |
Risk calculators and risk factors for Glycogen storage disease type II laboratory findings |
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
- Elevated CK
References
- ↑ 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.
- ↑ 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.
- ↑ 3.0 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.
- ↑ 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.
- ↑ 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. - ↑ 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.
- ↑ 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.