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Glycogen storage disease due to acid maltase deficiency, infantile onset

MedGen UID:
923868
•Concept ID:
C3888924
•
Disease or Syndrome
Synonyms: Alpha-1,4-glucosidase acid deficiency, infantile onset; alpha-1,4-glucosidase acid deficiency, infantile onset; glycogen storage disease due to acid maltase deficiency, infantile onset; Glycogen storage disease type 2, infantile onset; glycogen storage disease type 2, infantile onset; Glycogen storage disease type II infantile onset; Glycogen storage disease type II, infantile onset; glycogen storage disease type II, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; glycogenosis due to acid maltase deficiency, infantile onset; Glycogenosis type 2, infantile onset; glycogenosis type 2, infantile onset; Glycogenosis type II, infantile onset; glycogenosis type II, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type 2, infantile onset; GSD type II, infantile onset; Pompe disease, infantile onset
SNOMED CT: Glycogen storage disease due to acid maltase deficiency, infantile onset (722302009); Glycogenosis due to acid maltase deficiency, infantile onset (722302009); Glycogenosis type II, infantile onset (722302009); Pompe disease, infantile onset (722302009); Glycogen storage disease type II infantile onset (722302009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017694
Orphanet: ORPHA308552

Definition

Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlycogen storage disease due to acid maltase deficiency, infantile onset

Professional guidelines

PubMed

Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy.
Muñoz S, Bertolin J, Jimenez V, Jaén ML, Garcia M, Pujol A, Vilà L, Sacristan V, Barbon E, Ronzitti G, El Andari J, Tulalamba W, Pham QH, Ruberte J, VandenDriessche T, Chuah MK, Grimm D, Mingozzi F, Bosch F
Mol Metab 2024 Mar;81:101899. Epub 2024 Feb 10 doi: 10.1016/j.molmet.2024.101899. PMID: 38346589Free PMC Article
Advances in diagnosis and management of Pompe disease.
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free 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

Recent clinical studies

Etiology

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Kishnani PS, Kronn D, Brassier A, Broomfield A, Davison J, Hahn SH, Kumada S, Labarthe F, Ohki H, Pichard S, Prakalapakorn SG, Haack KA, Kittner B, Meng X, Sparks S, Wilson C, Zaher A, Chien YH; Mini-COMET Investigators
Genet Med 2023 Feb;25(2):100328. Epub 2022 Dec 21 doi: 10.1016/j.gim.2022.10.010. PMID: 36542086
Advances in diagnosis and management of Pompe disease.
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Enzyme replacement therapy for infantile-onset Pompe disease.
Chen M, Zhang L, Quan S
Cochrane Database Syst Rev 2017 Nov 20;11(11):CD011539. doi: 10.1002/14651858.CD011539.pub2. PMID: 29155436Free PMC Article
Spectrum of metabolic myopathies.
Angelini C
Biochim Biophys Acta 2015 Apr;1852(4):615-21. Epub 2014 Jul 2 doi: 10.1016/j.bbadis.2014.06.031. PMID: 24997454
Autophagic vacuolar myopathy.
Nishino I
Semin Pediatr Neurol 2006 Jun;13(2):90-5. doi: 10.1016/j.spen.2006.06.004. PMID: 17027858

Diagnosis

A Comprehensive Update on Late-Onset Pompe Disease.
Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, Poli L, Padovani A, Filosto M
Biomolecules 2023 Aug 22;13(9) doi: 10.3390/biom13091279. PMID: 37759679Free PMC Article
Advances in diagnosis and management of Pompe disease.
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Pompe disease: pathogenesis, molecular genetics and diagnosis.
Taverna S, Cammarata G, Colomba P, Sciarrino S, Zizzo C, Francofonte D, Zora M, Scalia S, Brando C, Curto AL, Marsana EM, Olivieri R, Vitale S, Duro G
Aging (Albany NY) 2020 Aug 3;12(15):15856-15874. doi: 10.18632/aging.103794. PMID: 32745073Free 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
Late-onset Pompe's disease.
Teener JW
Semin Neurol 2012 Nov;32(5):506-11. Epub 2013 May 15 doi: 10.1055/s-0033-1334469. PMID: 23677658

Therapy

Enzyme replacement therapy for late-onset Pompe disease.
Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, Smith S, Remmington T
Cochrane Database Syst Rev 2023 Dec 12;12(12):CD012993. doi: 10.1002/14651858.CD012993.pub2. PMID: 38084761Free PMC Article
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, Poli L, Padovani A, Filosto M
Biomolecules 2023 Aug 22;13(9) doi: 10.3390/biom13091279. PMID: 37759679Free PMC Article
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Kishnani PS, Kronn D, Brassier A, Broomfield A, Davison J, Hahn SH, Kumada S, Labarthe F, Ohki H, Pichard S, Prakalapakorn SG, Haack KA, Kittner B, Meng X, Sparks S, Wilson C, Zaher A, Chien YH; Mini-COMET Investigators
Genet Med 2023 Feb;25(2):100328. Epub 2022 Dec 21 doi: 10.1016/j.gim.2022.10.010. PMID: 36542086
Advances in diagnosis and management of Pompe disease.
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Enzyme replacement therapy for infantile-onset Pompe disease.
Chen M, Zhang L, Quan S
Cochrane Database Syst Rev 2017 Nov 20;11(11):CD011539. doi: 10.1002/14651858.CD011539.pub2. PMID: 29155436Free PMC Article

Prognosis

Enzyme replacement therapy for late-onset Pompe disease.
Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, Smith S, Remmington T
Cochrane Database Syst Rev 2023 Dec 12;12(12):CD012993. doi: 10.1002/14651858.CD012993.pub2. PMID: 38084761Free PMC Article
Infantile-onset Pompe disease in seven Mexican children.
Sánchez-Sánchez LM, Ávila-Rejón C, Díaz-Martínez R, Díaz-Murillo B, Kazakova E, López-Valdez J, Martínez-Montoya V, Olaiz-Urbina J, Radillo-Díaz P, Ricárdez-Marcial E, Sandoval-Pacheco R, Torres-Octavo B, Vergara-Sánchez I
Gac Med Mex 2022;158(5):265-270. doi: 10.24875/GMM.M22000694. PMID: 36572041
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
Holzwarth J, Minopoli N, Pfrimmer C, Smitka M, Borrel S, Kirschner J, Muschol N, Hartmann H, Hennermann JB, Neubauer BA, Hobbiebrunken E, Husain RA, Hahn A
Neuropediatrics 2022 Feb;53(1):39-45. Epub 2021 Dec 1 doi: 10.1055/s-0041-1735250. PMID: 34852371
Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
Richardson JS, Kemper AR, Grosse SD, Lam WKK, Rose AM, Ahmad A, Gebremariam A, Prosser LA
Genet Med 2021 Apr;23(4):758-766. Epub 2020 Dec 7 doi: 10.1038/s41436-020-01038-0. PMID: 33281187Free PMC Article
Genetic defects in patients with glycogenosis type II (acid maltase deficiency).
Raben N, Nichols RC, Boerkoel C, Plotz P
Muscle Nerve Suppl 1995;3:S70-4. doi: 10.1002/mus.880181415. PMID: 7603531

Clinical prediction guides

Enzyme replacement therapy for late-onset Pompe disease.
Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, Smith S, Remmington T
Cochrane Database Syst Rev 2023 Dec 12;12(12):CD012993. doi: 10.1002/14651858.CD012993.pub2. PMID: 38084761Free PMC Article
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Kishnani PS, Kronn D, Brassier A, Broomfield A, Davison J, Hahn SH, Kumada S, Labarthe F, Ohki H, Pichard S, Prakalapakorn SG, Haack KA, Kittner B, Meng X, Sparks S, Wilson C, Zaher A, Chien YH; Mini-COMET Investigators
Genet Med 2023 Feb;25(2):100328. Epub 2022 Dec 21 doi: 10.1016/j.gim.2022.10.010. PMID: 36542086
Infantile-onset Pompe disease in seven Mexican children.
Sánchez-Sánchez LM, Ávila-Rejón C, Díaz-Martínez R, Díaz-Murillo B, Kazakova E, López-Valdez J, Martínez-Montoya V, Olaiz-Urbina J, Radillo-Díaz P, Ricárdez-Marcial E, Sandoval-Pacheco R, Torres-Octavo B, Vergara-Sánchez I
Gac Med Mex 2022;158(5):265-270. doi: 10.24875/GMM.M22000694. PMID: 36572041
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.
Al-Hassnan Z, Hashmi NA, Makhseed N, Omran TB, Al Jasmi F, Teneiji AA
Orphanet J Rare Dis 2022 Oct 27;17(1):388. doi: 10.1186/s13023-022-02545-w. PMID: 36303251Free PMC Article
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.
Hsueh CY, Huang CY, Yang CF, Chang CC, Lin WS, Cheng HL, Wu SL, Cheng YF, Niu DM
Orphanet J Rare Dis 2021 Aug 5;16(1):348. doi: 10.1186/s13023-021-01817-1. PMID: 34353347Free PMC Article

Recent systematic reviews

Enzyme replacement therapy for late-onset Pompe disease.
Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, Smith S, Remmington T
Cochrane Database Syst Rev 2023 Dec 12;12(12):CD012993. doi: 10.1002/14651858.CD012993.pub2. PMID: 38084761Free 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
The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.
Schoser B, Bilder DA, Dimmock D, Gupta D, James ES, Prasad S
BMC Neurol 2017 Nov 22;17(1):202. doi: 10.1186/s12883-017-0983-2. PMID: 29166883Free PMC Article
Enzyme replacement therapy for infantile-onset Pompe disease.
Chen M, Zhang L, Quan S
Cochrane Database Syst Rev 2017 Nov 20;11(11):CD011539. doi: 10.1002/14651858.CD011539.pub2. PMID: 29155436Free PMC Article
Clinical and histologic ocular findings in pompe disease.
Yanovitch TL, Banugaria SG, Proia AD, Kishnani PS
J Pediatr Ophthalmol Strabismus 2010 Jan-Feb;47(1):34-40. Epub 2010 Jan 21 doi: 10.3928/01913913-20100106-08. PMID: 20128552

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