Glycogen storage disease type II diagnostic study of choice: Difference between revisions
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{{Glycogen storage disease type II}} | {{Glycogen storage disease type II}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{Anmol}} | ||
== Overview == | == 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 == | == Diagnostic Study of Choice == | ||
=== Gold standard === | === 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.<ref name="pmid18078773">{{cite journal| author=Pompe Disease Diagnostic Working Group. Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E et al.| title=Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. | journal=Mol Genet Metab | year= 2008 | volume= 93 | issue= 3 | pages= 275-81 | pmid=18078773 | doi=10.1016/j.ymgme.2007.09.006 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18078773 }} </ref><ref name="pmid17270480">{{cite journal| author=Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D et al.| title=Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. | journal=Mol Genet Metab | year= 2007 | volume= 90 | issue= 4 | pages= 449-52 | pmid=17270480 | doi=10.1016/j.ymgme.2006.12.006 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17270480 }} </ref> | * 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.<ref name="pmid18078773">{{cite journal| author=Pompe Disease Diagnostic Working Group. Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E et al.| title=Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. | journal=Mol Genet Metab | year= 2008 | volume= 93 | issue= 3 | pages= 275-81 | pmid=18078773 | doi=10.1016/j.ymgme.2007.09.006 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18078773 }} </ref><ref name="pmid17270480">{{cite journal| author=Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D et al.| title=Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. | journal=Mol Genet Metab | year= 2007 | volume= 90 | issue= 4 | pages= 449-52 | pmid=17270480 | doi=10.1016/j.ymgme.2006.12.006 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17270480 }} </ref> | ||
* The following result of acid α-glucosidase (GAA) activity in fibroblast of a dried blood sample is confirmatory of glycogen storage disease type 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 | ** Decreased activity of GAA in [[fibroblasts]] | ||
===Diagnostic algorithms=== | ===Diagnostic algorithms=== | ||
<br> | <br> | ||
<div style="text-align: center;">'''Algorithms for diagnostic approach of glycogen storage disease type 2'''<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></div> | <div style="text-align: center;">'''Algorithms for diagnostic approach of glycogen storage disease type 2'''<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></div> | ||
{| | {| | ||
! colspan="2" | ! colspan="2" style="background:#DCDCDC;" align="center" + |Diagnostic algorithm for Infantile onset glyogen storage disease type II | ||
|- | |- | ||
| colspan="2"| | | colspan="2" | | ||
|- | |- | ||
! style="background:#DCDCDC;" align="center" + |COMMON PRESENTING SYMPTOMS | ! style="background:#DCDCDC;" align="center" + |COMMON PRESENTING SYMPTOMS | ||
| align="center" + | | | align="center" + | | ||
{{Family tree/start}} | {{Family tree/start}} | ||
{{Family tree|boxstyle=background: #DCDCDC; color: #000000;| A01 | | A02 | | A03 | | A04 |A01='''CARDIOVASCULAR'''<br>Cardiomegaly;<br>Congestive heart failure;<br>Arrhythmias such as<br> supraventricular<br>tachycardia;<br>Cardiac arrest during<br>surgery.|A02='''PULMONARY'''<br>Frequent infections;<br>Respiratory distress/<br>insufficiency.|A03='''NEUROLOGICAL'''<br>Hypotonia;<br>Developmental delay;<br>Gross motor delay;<br>Loss of early motor milestones.|A04='''GASTROINTESTINAL'''<br>Failure to thrive;<br>Feeding difficulties. }} | {{Family tree|boxstyle=background: #DCDCDC; color: #000000;| A01 | | A02 | | A03 | | A04 |A01='''CARDIOVASCULAR'''<br>[[Cardiomegaly]];<br>[[Congestive heart failure]];<br>[[Arrhythmias]] such as<br> supraventricular<br>tachycardia;<br>[[Cardiac arrest]] during<br>[[surgery]].|A02='''PULMONARY'''<br>Frequent [[infections]];<br>[[Respiratory distress]]/<br>insufficiency.|A03='''NEUROLOGICAL'''<br>[[Hypotonia]];<br>[[Developmental delay]];<br>Gross motor delay;<br>Loss of early motor milestones.|A04='''GASTROINTESTINAL'''<br>[[Failure to thrive]];<br>[[Feeding difficulties]]. }} | ||
{{Family tree/end}} | {{Family tree/end}} | ||
<br> | <br> | ||
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| align="center" + | | | align="center" + | | ||
{{Family tree/start}} | {{Family tree/start}} | ||
{{Family tree|boxstyle=background: #DCDCDC; color: #000000;| B01 | | B02 | | B03 | | B04 |B01='''CARDIOVASCULAR'''<br>Murmur, gallop, pulsatile<br>precordium, excessive<br>sweating (cardiac related);<br>Cardiomegaly;<br>Cardiomyopathy;<br>(hypertrophic +/- LVOTO)<br>progressing to dilated<br>cardiomyopathy.|B02='''PULMONARY'''<br>Progressive respiratory<br>involvement, nasal flaring;<br>Use of accessory<br>muscles, IC and SC<br>retractions, decreased<br>breath sounds in LLL;<br>Coarse breath sounds.|B03='''NEUROLOGICAL'''<br>Delayed motor<br>milestones<br>Hypotonia, head lag,<br>floppy baby with ability to<br>"slip through", frog leg<br>position, hypertrophy of<br>gastrocnemius muscle.|B04='''GASTROINTESTINAL'''<br>Macroglossia, open<br>mouth, low facial tone,<br>decreased gag | {{Family tree|boxstyle=background: #DCDCDC; color: #000000;| B01 | | B02 | | B03 | | B04 |B01='''CARDIOVASCULAR'''<br>[[Murmur]], [[gallop]], pulsatile<br>[[precordium]], excessive<br>[[sweating]] ([[cardiac]] related);<br>[[Cardiomegaly]];<br>[[Cardiomyopathy]];<br>(hypertrophic +/- LVOTO)<br>progressing to dilated<br>[[cardiomyopathy]].|B02='''PULMONARY'''<br>Progressive [[respiratory]]<br>involvement, nasal flaring;<br>Use of accessory<br>muscles, IC and SC<br>retractions, decreased<br>breath sounds in LLL;<br>Coarse breath sounds.|B03='''NEUROLOGICAL'''<br>Delayed motor<br>milestones<br>[[Hypotonia]], head lag,<br>floppy baby with ability to<br>"slip through", frog leg<br>position, hypertrophy of<br>[[gastrocnemius muscle]].|B04='''GASTROINTESTINAL'''<br>[[Macroglossia]], open<br>mouth, low facial tone,<br>decreased [[gag reflex]],<br>[[failure to thrive]], poor suck<br>and swallow, difficulty<br>feeding with pooling of<br>oral secretions;<br>[[hepatomegaly]]. }} | ||
{{Family tree/end}} | {{Family tree/end}} | ||
<br> | <br> | ||
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{{Family tree/start}} | {{Family tree/start}} | ||
{{Family tree|boxstyle=background: #FFFFFF; color: #000000;| | | | | | | | |,|-| C03 | C03=If GAA present, follow-<br>up with confirmatory<br>testing, if strong clinical<br>suspicion.}} | {{Family tree|boxstyle=background: #FFFFFF; color: #000000;| | | | | | | | |,|-| C03 | C03=If GAA present, follow-<br>up with confirmatory<br>testing, if strong clinical<br>suspicion.}} | ||
{{Family tree|boxstyle=background: #DCDCDC; color: #000000;| C01 | | C02 |-|(| | C01='''CLINICAL STUDIES'''<br>Chest X-ray- Cardiomegaly;<br>EKG - huge R wave, short PR interval and broad<br>QRS complex;<br>Echocardiography - cardiomyopathy<br>Electrophysiology (EMG/NCS) - myopathy.|C02='''LABORATORY (BLOOD OR URINE)'''<br>Elevated CK, AST, ALT, LDH (in blood)<br>Glc4 (in urine);<br>GAA activity in dried blood spots.<br>lymphocytes, or leukocytes with blocking<br>antibodies to neutral | {{Family tree|boxstyle=background: #DCDCDC; color: #000000;| C01 | | C02 |-|(| | C01='''CLINICAL STUDIES'''<br>Chest X-ray- Cardiomegaly;<br>EKG - huge R wave, short PR interval and broad<br>QRS complex;<br>Echocardiography - [[cardiomyopathy]]<br>Electrophysiology (EMG/NCS) - [[myopathy]].|C02='''LABORATORY (BLOOD OR URINE)'''<br>Elevated [[CK]], [[AST]], [[ALT]], [[LDH]] (in [[blood]])<br>Glc4 (in urine);<br>GAA activity in dried blood spots.<br>lymphocytes, or leukocytes with blocking<br>antibodies to neutral maltase;<br>Mutation testing in familial mutation<br>known }} | ||
{{Family tree|boxstyle=background: #FFFFF; color: #000000;| | | | | | | | |`|-| C04 | C04=If GAA absent, obtain<br>confirmatory studies for<br>definitive diagnosis.}} | {{Family tree|boxstyle=background: #FFFFF; color: #000000;| | | | | | | | |`|-| C04 | C04=If GAA absent, obtain<br>confirmatory studies for<br>definitive diagnosis.}} | ||
{{Family tree/end}} | {{Family tree/end}} | ||
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| align="center" + | | | align="center" + | | ||
{{Family tree/start}} | {{Family tree/start}} | ||
{{Family tree|boxstyle=background: #DCDCDC; color: #000000;| D01 | | D02 | | D03 |D01='''DNA'''<br>GAA mutation testing|D02='''ENZYMOLOGY'''<br>GAA activity testing in fibroblasts or muscle<br>(the gold standard). Caution with muscle<br>biopsy is needed sue to anesthesia risk.|D03='''HISTOLOGY/<br>HISTOCHEMISTRY'''<br>Increased lysosomal glycogen<br>Vacuolated cells }} | {{Family tree|boxstyle=background: #DCDCDC; color: #000000;| D01 | | D02 | | D03 |D01='''DNA'''<br>GAA [[mutation]] testing|D02='''ENZYMOLOGY'''<br>GAA activity testing in [[fibroblasts]] or [[muscle]]<br>(the gold standard). Caution with [[muscle]]<br>biopsy is needed sue to [[anesthesia]] risk.|D03='''HISTOLOGY/<br>HISTOCHEMISTRY'''<br>Increased [[lysosomal]] [[glycogen]]<br>Vacuolated cells }} | ||
{{Family tree/end}} | {{Family tree/end}} | ||
|- | |- | ||
| 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> | ||
|} | |} | ||
<br> | <br> | ||
<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> | |||
<br> | <br> | ||
{| | {| | ||
! colspan="2" | ! colspan="2" style="background:#DCDCDC;" align="center" + |Diagnostic algorithm for Late onset (>1 year) glyogen storage disease type II | ||
|- | |- | ||
| colspan="2"| | | colspan="2" | | ||
|- | |- | ||
! style="background:#DCDCDC;" align="center" + |COMMON PRESENTING SYMPTOMS | ! style="background:#DCDCDC;" align="center" + |COMMON PRESENTING SYMPTOMS | ||
| align="center" + | | | align="center" + | | ||
{{Family tree/start}} | {{Family tree/start}} | ||
{{Family tree|boxstyle=background: #DCDCDC; color: #000000;| A01 | | A02 | | A03 | |A01='''PULMONARY'''<br>Frequent infections;<br>Respiratory insufficiency/distress;<br>Sleep apnea;<br> Somnolence<br>Morning headaches.|A02='''MUSCULOSKELETAL'''<br>Limb girdle weakness<br>Back pain;<br>Exercise tolerance;<br>Rigid spine syndrome.|A03='''GASTROINTESTINAL'''<br>Feeding and swallowing difficulties;<br>Poor weight gain. }} | {{Family tree|boxstyle=background: #DCDCDC; color: #000000;| A01 | | A02 | | A03 | |A01='''PULMONARY'''<br>Frequent [[infections]];<br>Respiratory insufficiency/distress;<br>[[Sleep apnea]];<br> [[Somnolence]]<br>Morning [[headaches]].|A02='''MUSCULOSKELETAL'''<br>Limb girdle weakness<br>[[Back pain]];<br>Exercise tolerance;<br>Rigid spine syndrome.|A03='''GASTROINTESTINAL'''<br>Feeding and [[Dysphagia|swallowing difficulties]];<br>Poor weight gain. }} | ||
{{Family tree/end}} | {{Family tree/end}} | ||
<br> | <br> | ||
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| align="center" + | | | align="center" + | | ||
{{Family tree/start}} | {{Family tree/start}} | ||
{{Family tree|boxstyle=background: #DCDCDC; color: #000000;| B01 | | B02 | | B03 | | B04 |B01='''RESPIRATORY'''<br>Respiratory | {{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 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). }} | ||
{{Family tree/end}} | {{Family tree/end}} | ||
<br> | <br> | ||
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{{Family tree/start}} | {{Family tree/start}} | ||
{{Family tree|boxstyle=background: #FFFFFF; color: #000000;| | | | | | | | |,|-| C03 | C03=If GAA present, follow-<br>up with confirmatory<br>testing, if strong clinical<br>suspicion.}} | {{Family tree|boxstyle=background: #FFFFFF; color: #000000;| | | | | | | | |,|-| C03 | C03=If GAA present, follow-<br>up with confirmatory<br>testing, if strong clinical<br>suspicion.}} | ||
{{Family tree|boxstyle=background: #DCDCDC; color: #000000;| C01 | | C02 |-|(| | C01='''CLINICAL STUDIES'''<br>Lung function testing lying and sitting;<br>Muscle strength testing;<br>Electrophysiology (EMG/NCS) - myopathy;<br>Muscle biopsy - histology and<br>histochemistry.|C02='''LABORATORY (BLOOD OR URINE)'''<br>Elevated CK, AST, ALT, LDH (in blood)<br>Glc4 (in urine);<br>GAA activity in dried blood spots,<br>lymphocytes, or leukocytes with<br>blocking antibodies to neutral | {{Family tree|boxstyle=background: #DCDCDC; color: #000000;| C01 | | C02 |-|(| | C01='''CLINICAL STUDIES'''<br>[[Pulmonary function test|Lung function testing]] lying and sitting;<br>Muscle strength testing;<br>Electrophysiology (EMG/NCS) - [[myopathy]];<br>Muscle biopsy - histology and<br>histochemistry.|C02='''LABORATORY (BLOOD OR URINE)'''<br>Elevated [[CK]], [[AST]], [[ALT]], [[LDH]] (in [[blood]])<br>Glc4 (in [[urine]]);<br>GAA activity in dried blood spots,<br>[[lymphocytes]], or [[leukocytes]] with<br>blocking antibodies to neutral maltase;<br>Mutation testing in familial mutation<br>known }} | ||
{{Family tree|boxstyle=background: #FFFFF; color: #000000;| | | | | | | | |`|-| C04 | C04=If GAA absent, obtain<br>confirmatory studies for<br>definitive diagnosis.}} | {{Family tree|boxstyle=background: #FFFFF; color: #000000;| | | | | | | | |`|-| C04 | C04=If GAA absent, obtain<br>confirmatory studies for<br>definitive diagnosis.}} | ||
{{Family tree/end}} | {{Family tree/end}} | ||
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| align="center" + | | | align="center" + | | ||
{{Family tree/start}} | {{Family tree/start}} | ||
{{Family tree|boxstyle=background: #DCDCDC; color: #000000;| D01 | | D02 | | D03 |D01='''DNA'''<br>GAA mutation testing|D02='''ENZYMOLOGY'''<br>GAA activity testing in fibroblasts or muscle<br>(the gold standard);<br> ClinicaL | {{Family tree|boxstyle=background: #DCDCDC; color: #000000;| D01 | | D02 | | D03 |D01='''DNA'''<br>GAA mutation testing|D02='''ENZYMOLOGY'''<br>GAA activity testing in [[fibroblasts]] or [[muscle]]<br>(the gold standard);<br> ClinicaL coorelation with test result is required.|D03='''HISTOLOGY/<br>HISTOCHEMISTRY'''<br>(dependent on the site of biopsy)<br>Increased [[lysosomal]] [[glycogen]];<br>Vacuolated cells }} | ||
{{Family tree/end}} | {{Family tree/end}} | ||
|- | |- | ||
| 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> | ||
|} | |} | ||
<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}} | |||
{{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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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
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value (help). PMC 3110959. PMID 16702877.