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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

Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.
Hassnan ZA, 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
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

Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.
Hassnan ZA, 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
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.
Gragnaniello V, Deodato F, Gasperini S, Donati MA, Canessa C, Fecarotta S, Pascarella A, Spadaro G, Concolino D, Burlina A, Parenti G, Strisciuglio P, Fiumara A, Casa RD
Ital J Pediatr 2022 Mar 5;48(1):41. doi: 10.1186/s13052-022-01219-4. PMID: 35248118Free PMC Article
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease
Lancet Child Adolesc Health 2022 Jan;6(1):28-37. Epub 2021 Nov 22 doi: 10.1016/S2352-4642(21)00308-4. PMID: 34822769
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS, Desai AK, Lelias S, Miah SMS, Terry FE, Khan S, Li C, Yi JS, Ardito M, Martin WD, Kishnani PS
Front Immunol 2021;12:636731. Epub 2021 Jun 16 doi: 10.3389/fimmu.2021.636731. PMID: 34220802Free 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

Diagnosis

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease
Lancet Child Adolesc Health 2022 Jan;6(1):28-37. Epub 2021 Nov 22 doi: 10.1016/S2352-4642(21)00308-4. PMID: 34822769
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

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease
Lancet Child Adolesc Health 2022 Jan;6(1):28-37. Epub 2021 Nov 22 doi: 10.1016/S2352-4642(21)00308-4. PMID: 34822769
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
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS, Desai AK, Lelias S, Miah SMS, Terry FE, Khan S, Li C, Yi JS, Ardito M, Martin WD, Kishnani PS
Front Immunol 2021;12:636731. Epub 2021 Jun 16 doi: 10.3389/fimmu.2021.636731. PMID: 34220802Free 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
Gene Therapy for Pompe Disease: The Time is now.
Colella P, Mingozzi F
Hum Gene Ther 2019 Oct;30(10):1245-1262. Epub 2019 Sep 9 doi: 10.1089/hum.2019.109. PMID: 31298581

Prognosis

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.
Hassnan ZA, 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
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
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS, Desai AK, Lelias S, Miah SMS, Terry FE, Khan S, Li C, Yi JS, Ardito M, Martin WD, Kishnani PS
Front Immunol 2021;12:636731. Epub 2021 Jun 16 doi: 10.3389/fimmu.2021.636731. PMID: 34220802Free PMC Article
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

Clinical prediction guides

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.
Hassnan ZA, 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
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease
Lancet Child Adolesc Health 2022 Jan;6(1):28-37. Epub 2021 Nov 22 doi: 10.1016/S2352-4642(21)00308-4. PMID: 34822769
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS, Desai AK, Lelias S, Miah SMS, Terry FE, Khan S, Li C, Yi JS, Ardito M, Martin WD, Kishnani PS
Front Immunol 2021;12:636731. Epub 2021 Jun 16 doi: 10.3389/fimmu.2021.636731. PMID: 34220802Free PMC Article
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
Gupta N, Kazi ZB, Nampoothiri S, Jagdeesh S, Kabra M, Puri RD, Muranjan M, Kalaivani M, Rehder C, Bali D, Verma IC, Kishnani PS
J Pediatr 2020 Jan;216:44-50.e5. Epub 2019 Oct 9 doi: 10.1016/j.jpeds.2019.08.058. PMID: 31606152

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 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
Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations.
Kemper AR, Hwu WL, Lloyd-Puryear M, Kishnani PS
Pediatrics 2007 Nov;120(5):e1327-34. doi: 10.1542/peds.2007-0388. PMID: 17974725

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