Glycogen storage disease type II diagnostic study of choice: Difference between revisions
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| colspan="2" style="background:#7d7d7d; color: #FFFFFF;" + |<small>''' | | colspan="2" style="background:#7d7d7d; color: #FFFFFF;" + |<small>'''Adapted from GENETICS IN MEDICINE'''<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></small> | ||
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<small>ABBREVIATIONS: LVOTO - left ventricular outlet tract obstruction; IC - intercostal; SC - subcostal; LLL - left lower lung; EMG - [[ | <small>ABBREVIATIONS: LVOTO - left ventricular outlet tract obstruction; IC - intercostal; SC - subcostal; LLL - left lower lung; EMG - [[Electromyography]]; NCS - [[Nerve conduction study]]; GAA - acid-alpha glucosidase; [[CK]] - [[creatine kinase]]; [[AST]] - [[aspartate aminotransferase]]; [[ALT]] - [[alanine aminotransferase]]</small> | ||
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{{Family tree|boxstyle=background: #DCDCDC; color: #000000;| B01 | | B02 | | B03 | | B04 |B01='''RESPIRATORY'''<br>Respiratory insufficiency;<br>[[orthopnea]], [[sleep apnea]];<br>exertional [[dyspnea]];<br>Weak [[cough]].|B02='''MUSCULOSKELETAL'''<br>Progressive proximal limb-girdle<br>[[muscle weakness]] | {{Family tree|boxstyle=background: #DCDCDC; color: #000000;| B01 | | B02 | | B03 | | B04 |B01='''RESPIRATORY'''<br>Respiratory insufficiency;<br>[[orthopnea]], [[sleep apnea]];<br>exertional [[dyspnea]];<br>Weak [[cough]].|B02='''MUSCULOSKELETAL'''<br>Progressive proximal limb-girdle<br>[[muscle weakness]] | ||
(lower<br>extremities . upper extremities;<br>gain abnormalities; exercise<br>intolerance; lordosis/scoliosis;<br>hypotonia; lower back pain;<br>Gower's sign.|B03='''GASTROINTESTINAL'''<br>Difficulty maintaining<br>normal weight;<br>Difficulty chewing or jaw<br>muscle fatigue;<br>Decreased [[gag reflex]];<br>[[hepatomegaly]].|B04='''CARDIOVASCULAR'''<br>Infrequent<br>[[cardiomegaly]]<br>(juveniles). }} | (lower<br>extremities. upper extremities;<br>gain abnormalities; exercise<br>intolerance; lordosis/scoliosis;<br>hypotonia; lower back pain;<br>Gower's sign.|B03='''GASTROINTESTINAL'''<br>Difficulty maintaining<br>normal weight;<br>Difficulty chewing or jaw<br>muscle fatigue;<br>Decreased [[gag reflex]];<br>[[hepatomegaly]].|B04='''CARDIOVASCULAR'''<br>Infrequent<br>[[cardiomegaly]]<br>(juveniles). }} | ||
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| colspan="2" style="background:#7d7d7d; color: #FFFFFF;" + |<small>''' | | colspan="2" style="background:#7d7d7d; color: #FFFFFF;" + |<small>'''Adapted from GENETICS IN MEDICINE'''<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></small> | ||
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<small>ABBREVIATIONS: EMG - [[Electromyogtaphy]]; NCS - [[Nerve conduction study]]; GAA - acid-alpha glucosidase; [[CK]] - [[creatine kinase]]; [[AST]] - [[aspartate aminotransferase]]; [[ALT]] - [[alanine aminotransferase]]</small> | <small>ABBREVIATIONS: EMG - [[Electromyogtaphy]]; NCS - [[Nerve conduction study]]; GAA - acid-alpha glucosidase; [[CK]] - [[creatine kinase]]; [[AST]] - [[aspartate aminotransferase]]; [[ALT]] - [[alanine aminotransferase]]</small> | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category:Endocrinology]] | |||
[[Category:Hepatology]] | |||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] |
Latest revision as of 17:55, 2 October 2018
Glycogen storage disease type II Microchapters |
Differentiating Glycogen storage disease type II from other Diseases |
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Diagnosis |
Treatment |
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Glycogen storage disease type II diagnostic study of choice On the Web |
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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
Acid α-glucosidase (GAA) activity in fibroblast of a dried blood sample is the gold standard test for the diagnosis of glycogen storage disease type 2. Decreased activity of GAA in fibroblasts a dried blood sample is confirmatory of glycogen storage disease type 2.
Diagnostic Study of Choice
Gold standard
- Acid α-glucosidase (GAA) activity in fibroblast of a dried blood sample is the gold standard test for the diagnosis of glycogen storage disease type 2.[1][2]
- The following result of acid α-glucosidase (GAA) activity in fibroblast of a dried blood sample is confirmatory of glycogen storage disease type 2:
- Decreased activity of GAA in fibroblasts
Diagnostic algorithms
Diagnostic algorithm for Infantile onset glyogen storage disease type II | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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COMMON PRESENTING SYMPTOMS |
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PERTINENT PATIENT FINDNGS |
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INITIAL CLINICAL FINDINGS AND INVESTIGATIONS |
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CONFIRMATOY STUDIES |
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Adapted from GENETICS IN MEDICINE[3] |
ABBREVIATIONS: LVOTO - left ventricular outlet tract obstruction; IC - intercostal; SC - subcostal; LLL - left lower lung; EMG - Electromyography; NCS - Nerve conduction study; GAA - acid-alpha glucosidase; CK - creatine kinase; AST - aspartate aminotransferase; ALT - alanine aminotransferase
Diagnostic algorithm for Late onset (>1 year) glyogen storage disease type II | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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COMMON PRESENTING SYMPTOMS |
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PERTINENT PATIENT FINDNGS |
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INITIAL CLINICAL FINDINGS AND INVESTIGATIONS |
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CONFIRMATOY STUDIES |
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Adapted from GENETICS IN MEDICINE[3] |
ABBREVIATIONS: EMG - Electromyogtaphy; NCS - Nerve conduction study; GAA - acid-alpha glucosidase; CK - creatine kinase; AST - aspartate aminotransferase; ALT - alanine aminotransferase
References
- ↑ Pompe Disease Diagnostic Working Group. Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E; et al. (2008). "Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting". Mol Genet Metab. 93 (3): 275–81. doi:10.1016/j.ymgme.2007.09.006. PMID 18078773.
- ↑ Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D; et al. (2007). "Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots". Mol Genet Metab. 90 (4): 449–52. doi:10.1016/j.ymgme.2006.12.006. PMID 17270480.
- ↑ 3.0 3.1 3.2 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.