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GLYCOGEN STORAGE DISEASE II, ADULT FORM

MedGen UID:
865418
•Concept ID:
C4016981
•
Finding
OMIM®: 606800

Professional guidelines

PubMed

Infantile-onset Pompe disease: Diagnosis and management.
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Spécola N
Arch Argent Pediatr 2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. PMID: 31339275
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M, Voit T, Kroos MA, Derks TG, Rubio-Gozalbo ME, Willemsen MA, Lachmann RH, Mengel E, Michelakakis H, de Jongste JC, Reuser AJ, van der Ploeg AT
Orphanet J Rare Dis 2016 May 18;11(1):65. doi: 10.1186/s13023-016-0442-y. PMID: 27189384Free PMC Article
Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.
Pascual SI
Adv Exp Med Biol 2009;652:39-46. doi: 10.1007/978-90-481-2813-6_4. PMID: 20225018

Recent clinical studies

Etiology

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS
JCI Insight 2024 May 14;9(12) doi: 10.1172/jci.insight.177722. PMID: 38912588Free PMC Article
Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial.
Toscano A, Pollissard L, Msihid J, van der Beek N, Kishnani PS, Dimachkie MM, Berger KI, DasMahapatra P, Thibault N, Hamed A, Zhou T, Haack KA, Schoser B
Mol Genet Metab 2024 Feb;141(2):108121. Epub 2023 Dec 27 doi: 10.1016/j.ymgme.2023.108121. PMID: 38184428
A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets.
Rossi A, Venema A, Haarsma P, Feldbrugge L, Burghard R, Rodriguez-Buritica D, Parenti G, Oosterveer MH, Derks TGJ
J Clin Endocrinol Metab 2022 Aug 18;107(9):e3612-e3623. doi: 10.1210/clinem/dgac411. PMID: 35786777Free PMC Article
Cardiovascular disease in non-classic Pompe disease: A systematic review.
van Kooten HA, Roelen CHA, Brusse E, van der Beek NAME, Michels M, van der Ploeg AT, Wagenmakers MAEM, van Doorn PA
Neuromuscul Disord 2021 Feb;31(2):79-90. Epub 2020 Nov 9 doi: 10.1016/j.nmd.2020.10.009. PMID: 33386209
Diagnostic evaluation of clinically normal subjects with chronic hyperCKemia.
Fernandez C, de Paula AM, Figarella-Branger D, Krahn M, Giorgi R, Chabrol B, Monfort MF, Pouget J, Pellissier JF
Neurology 2006 May 23;66(10):1585-7. doi: 10.1212/01.wnl.0000216144.69630.6e. PMID: 16717227

Diagnosis

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS
JCI Insight 2024 May 14;9(12) doi: 10.1172/jci.insight.177722. PMID: 38912588Free PMC Article
Infantile-onset Pompe disease: Diagnosis and management.
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, Maxit C, Schenone A, Spécola N
Arch Argent Pediatr 2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. PMID: 31339275
Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.
Pascual SI
Adv Exp Med Biol 2009;652:39-46. doi: 10.1007/978-90-481-2813-6_4. PMID: 20225018
Glycogen storage disease type II: clinical overview.
Di Rocco M, Buzzi D, Tarò M
Acta Myol 2007 Jul;26(1):42-4. PMID: 17915568Free PMC Article
Glycogen storage diseases.
Hug G
Birth Defects Orig Artic Ser 1976;12(6):145-75. PMID: 788807

Therapy

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS
JCI Insight 2024 May 14;9(12) doi: 10.1172/jci.insight.177722. PMID: 38912588Free PMC Article
Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial.
Toscano A, Pollissard L, Msihid J, van der Beek N, Kishnani PS, Dimachkie MM, Berger KI, DasMahapatra P, Thibault N, Hamed A, Zhou T, Haack KA, Schoser B
Mol Genet Metab 2024 Feb;141(2):108121. Epub 2023 Dec 27 doi: 10.1016/j.ymgme.2023.108121. PMID: 38184428
A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets.
Rossi A, Venema A, Haarsma P, Feldbrugge L, Burghard R, Rodriguez-Buritica D, Parenti G, Oosterveer MH, Derks TGJ
J Clin Endocrinol Metab 2022 Aug 18;107(9):e3612-e3623. doi: 10.1210/clinem/dgac411. PMID: 35786777Free PMC Article
The emerging phenotype of late-onset Pompe disease: A systematic literature review.
Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS
Mol Genet Metab 2017 Mar;120(3):163-172. Epub 2016 Dec 11 doi: 10.1016/j.ymgme.2016.12.004. PMID: 28185884
Adult Pompe disease: clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy.
Papadimas GK, Spengos K, Konstantinopoulou A, Vassilopoulou S, Vontzalidis A, Papadopoulos C, Michelakakis H, Manta P
Clin Neurol Neurosurg 2011 May;113(4):303-7. Epub 2011 Jan 7 doi: 10.1016/j.clineuro.2010.12.005. PMID: 21216089

Prognosis

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS
JCI Insight 2024 May 14;9(12) doi: 10.1172/jci.insight.177722. PMID: 38912588Free PMC Article
Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease.
Lika A, Andrinopoulou ER, van der Beek NAME, Rizopoulos D, van der Ploeg AT, Kruijshaar ME
Eur J Neurol 2024 May;31(5):e16223. Epub 2024 Feb 20 doi: 10.1111/ene.16223. PMID: 38375606Free PMC Article
Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS(®)) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data.
Kishnani PS, Shohet S, Raza S, Hummel N, Castelli JP, Sitaraman Das S, Jiang H, Kopiec A, Keyzor I, Hahn A
J Patient Rep Outcomes 2024 Jan 31;8(1):13. doi: 10.1186/s41687-024-00686-z. PMID: 38294575Free PMC Article
A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets.
Rossi A, Venema A, Haarsma P, Feldbrugge L, Burghard R, Rodriguez-Buritica D, Parenti G, Oosterveer MH, Derks TGJ
J Clin Endocrinol Metab 2022 Aug 18;107(9):e3612-e3623. doi: 10.1210/clinem/dgac411. PMID: 35786777Free PMC Article
Glycogen storage disease type II: clinical overview.
Di Rocco M, Buzzi D, Tarò M
Acta Myol 2007 Jul;26(1):42-4. PMID: 17915568Free PMC Article

Clinical prediction guides

Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS
JCI Insight 2024 May 14;9(12) doi: 10.1172/jci.insight.177722. PMID: 38912588Free PMC Article
Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease.
Lika A, Andrinopoulou ER, van der Beek NAME, Rizopoulos D, van der Ploeg AT, Kruijshaar ME
Eur J Neurol 2024 May;31(5):e16223. Epub 2024 Feb 20 doi: 10.1111/ene.16223. PMID: 38375606Free PMC Article
Validation of the Patient-Reported Outcomes Measurement Information System (PROMIS(®)) physical function questionnaire in late-onset Pompe disease using PROPEL phase 3 data.
Kishnani PS, Shohet S, Raza S, Hummel N, Castelli JP, Sitaraman Das S, Jiang H, Kopiec A, Keyzor I, Hahn A
J Patient Rep Outcomes 2024 Jan 31;8(1):13. doi: 10.1186/s41687-024-00686-z. PMID: 38294575Free PMC Article
Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial.
Toscano A, Pollissard L, Msihid J, van der Beek N, Kishnani PS, Dimachkie MM, Berger KI, DasMahapatra P, Thibault N, Hamed A, Zhou T, Haack KA, Schoser B
Mol Genet Metab 2024 Feb;141(2):108121. Epub 2023 Dec 27 doi: 10.1016/j.ymgme.2023.108121. PMID: 38184428
Progress and problems in muscle glycogenoses.
DiMauro S, Spiegel R
Acta Myol 2011 Oct;30(2):96-102. PMID: 22106711Free PMC Article

Recent systematic reviews

Cardiovascular disease in non-classic Pompe disease: A systematic review.
van Kooten HA, Roelen CHA, Brusse E, van der Beek NAME, Michels M, van der Ploeg AT, Wagenmakers MAEM, van Doorn PA
Neuromuscul Disord 2021 Feb;31(2):79-90. Epub 2020 Nov 9 doi: 10.1016/j.nmd.2020.10.009. PMID: 33386209
The emerging phenotype of late-onset Pompe disease: A systematic literature review.
Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS
Mol Genet Metab 2017 Mar;120(3):163-172. Epub 2016 Dec 11 doi: 10.1016/j.ymgme.2016.12.004. PMID: 28185884

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