Glycogen storage disease type II laboratory findings: Difference between revisions
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==Laboratory Findings== | ==Laboratory Findings== | ||
*Laboratory findings consistent with the diagnosis of glycogen storage disease type 2 (GSD type 2) include:<ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283 }} </ref><ref name="pmid16133732">{{cite journal| author=Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ et al.| title=The natural course of non-classic Pompe's disease; a review of 225 published cases. | journal=J Neurol | year= 2005 | volume= 252 | issue= 8 | pages= 875-84 | pmid=16133732 | doi=10.1007/s00415-005-0922-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16133732 }} </ref><ref name="pmid10078739">{{cite journal| author=Ausems MG, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJ, Wokke JH| title=A diagnostic protocol for adult-onset glycogen storage disease type II. | journal=Neurology | year= 1999 | volume= 52 | issue= 4 | pages= 851-3 | pmid=10078739 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10078739 }} </ref><ref name="pmid8223821">{{cite journal| author=Di Fiore MT, Manfredi R, Marri L, Zucchini A, Azzaroli L, Manfredi G| title=Elevation of transaminases as an early sign of late-onset glycogenosis type II. | journal=Eur J Pediatr | year= 1993 | volume= 152 | issue= 9 | pages= 784 | pmid=8223821 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8223821 }} </ref><ref name="pmid10078739">{{cite journal| author=Ausems MG, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJ, Wokke JH| title=A diagnostic protocol for adult-onset glycogen storage disease type II. | journal=Neurology | year= 1999 | volume= 52 | issue= 4 | pages= 851-3 | pmid=10078739 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10078739 }} </ref><ref name="pmid16702877">{{cite journal| author=ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ et al.| title=Pompe disease diagnosis and management guideline. | journal=Genet Med | year= 2006 | volume= 8 | issue= 5 | pages= 267-88 | pmid=16702877 | doi=10.109701.gim.0000218152.87434.f3 | pmc=3110959 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16702877 }} </ref><ref name="pmid11078593">{{cite journal| author=An Y, Young SP, Hillman SL, Van Hove JL, Chen YT, Millington DS| title=Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease. | journal=Anal Biochem | year= 2000 | volume= 287 | issue= 1 | pages= 136-43 | pmid=11078593 | doi=10.1006/abio.2000.4838 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11078593 }} </ref><ref name="pmid12711338">{{cite journal| author=Young SP, Stevens RD, An Y, Chen YT, Millington DS| title=Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry. | journal=Anal Biochem | year= 2003 | volume= 316 | issue= 2 | pages= 175-80 | pmid=12711338 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12711338 }} </ref> | *Laboratory findings consistent with the diagnosis of glycogen storage disease type 2 (GSD type 2) include:<ref name="pmid12897283">{{cite journal| author=van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT et al.| title=The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 2 | pages= 332-40 | pmid=12897283 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12897283 }} </ref><ref name="pmid16133732">{{cite journal| author=Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ et al.| title=The natural course of non-classic Pompe's disease; a review of 225 published cases. | journal=J Neurol | year= 2005 | volume= 252 | issue= 8 | pages= 875-84 | pmid=16133732 | doi=10.1007/s00415-005-0922-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16133732 }} </ref><ref name="pmid10078739">{{cite journal| author=Ausems MG, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJ, Wokke JH| title=A diagnostic protocol for adult-onset glycogen storage disease type II. | journal=Neurology | year= 1999 | volume= 52 | issue= 4 | pages= 851-3 | pmid=10078739 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10078739 }} </ref><ref name="pmid8223821">{{cite journal| author=Di Fiore MT, Manfredi R, Marri L, Zucchini A, Azzaroli L, Manfredi G| title=Elevation of transaminases as an early sign of late-onset glycogenosis type II. | journal=Eur J Pediatr | year= 1993 | volume= 152 | issue= 9 | pages= 784 | pmid=8223821 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8223821 }} </ref><ref name="pmid10078739">{{cite journal| author=Ausems MG, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJ, Wokke JH| title=A diagnostic protocol for adult-onset glycogen storage disease type II. | journal=Neurology | year= 1999 | volume= 52 | issue= 4 | pages= 851-3 | pmid=10078739 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10078739 }} </ref><ref name="pmid16702877">{{cite journal| author=ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ et al.| title=Pompe disease diagnosis and management guideline. | journal=Genet Med | year= 2006 | volume= 8 | issue= 5 | pages= 267-88 | pmid=16702877 | doi=10.109701.gim.0000218152.87434.f3 | pmc=3110959 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16702877 }} </ref><ref name="pmid11078593">{{cite journal| author=An Y, Young SP, Hillman SL, Van Hove JL, Chen YT, Millington DS| title=Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease. | journal=Anal Biochem | year= 2000 | volume= 287 | issue= 1 | pages= 136-43 | pmid=11078593 | doi=10.1006/abio.2000.4838 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11078593 }} </ref><ref name="pmid12711338">{{cite journal| author=Young SP, Stevens RD, An Y, Chen YT, Millington DS| title=Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry. | journal=Anal Biochem | year= 2003 | volume= 316 | issue= 2 | pages= 175-80 | pmid=12711338 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12711338 }} </ref> | ||
**Elevated CK | **Elevated [[CK]] | ||
***Infantile onset GSD type 2 has greatest elevation (up to 2000 UI/L) | ***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 | ***Late onset GSD type 2 has CK elevation of 1.5 to 15 times the upper limit | ||
**Elevated CK-MB | **Elevated [[CK-MB]] | ||
**Elevated LDH | **Elevated [[LDH]] | ||
**Elevated AST | **Elevated [[AST]] | ||
**Elevated ALT | **Elevated [[ALT]] | ||
**Elevated urinary glc 4 | **Elevated urinary glc 4 | ||
**Deficiency α-glucosidase in fibroblasts, leukocytes, and/or in muscle tissue | **Deficiency α-glucosidase in [[fibroblasts]], [[leukocytes]], and/or in muscle tissue | ||
==References== | ==References== |
Revision as of 20:48, 22 January 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
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 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.