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Acid alpha-glucosidase, allele 2

MedGen UID:
865416
•Concept ID:
C4016979
•
Finding
Synonym: ACID ALPHA-GLUCOSIDASE, ALLELE 2
 
OMIM®: 606800

Professional guidelines

PubMed

Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
Martinez-Montoya V, Sánchez-Sánchez LM, Sandoval-Pacheco R, Castro DMA, Arellano-Valdez CA, Ávila-Rejón CA, Aguilar-Juárez PA, Espino-Pluma M, González-Santillanes CA, Martínez-Segovia RI, Olmos-Morfin D, la Torre OP, Solís-Sánchez I, Espinosa MVM, Villarroel-Cortés CE, Velarde-Félix JS, López-Valdez J, Olaiz-Urbina J, Ricárdez-Marcial E, Vergara-Sánchez I, Radillo-Díaz P, Kazakova E, De la Fuente-Cortez B, Del Carmen Marquez-Quiróz L, Torres-Octavo B, Diaz-Martinez R
Mol Genet Genomic Med 2024 Jul;12(7):e2480. doi: 10.1002/mgg3.2480. PMID: 38958145Free PMC Article
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Chan MY, Jalil JA, Yakob Y, Wahab SAA, Ali EZ, Khalid MKNM, Leong HY, Chew HB, Sivabalakrishnan JB, Ngu LH
Orphanet J Rare Dis 2023 Aug 4;18(1):231. doi: 10.1186/s13023-023-02848-6. PMID: 37542277Free PMC Article
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, Scholl T, Hwu WL
Mol Genet Metab 2010 Apr;99(4):379-83. Epub 2009 Dec 28 doi: 10.1016/j.ymgme.2009.12.014. PMID: 20080426

Recent clinical studies

Etiology

HEPES-buffering of bicarbonate-containing culture medium perturbs lysosomal glucocerebrosidase activity.
van der Lienden MJC, Aten J, Boot RG, van Eijk M, Aerts JMFG, Kuo CL
J Cell Biochem 2022 May;123(5):893-905. Epub 2022 Mar 21 doi: 10.1002/jcb.30234. PMID: 35312102Free PMC Article
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites
Hum Mutat 2019 Nov;40(11):2146-2164. Epub 2019 Aug 7 doi: 10.1002/humu.23878. PMID: 31342611Free PMC Article
Screening for late-onset Pompe disease in Poland.
Jastrzębska A, Potulska-Chromik A, Łusakowska A, Jastrzębski M, Lipowska M, Kierdaszuk B, Kamińska A, Kostera-Pruszczyk A
Acta Neurol Scand 2019 Oct;140(4):239-243. Epub 2019 Jun 18 doi: 10.1111/ane.13133. PMID: 31125121
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population.
Lee JH, Shin JH, Park HJ, Kim SZ, Jeon YM, Kim HK, Kim DS, Choi YC
Neuromuscul Disord 2017 Jun;27(6):550-556. Epub 2017 Mar 10 doi: 10.1016/j.nmd.2017.03.005. PMID: 28433475
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C
Clin Chem 2017 Apr;63(4):842-851. Epub 2017 Feb 14 doi: 10.1373/clinchem.2016.259036. PMID: 28196920Free PMC Article

Diagnosis

HEPES-buffering of bicarbonate-containing culture medium perturbs lysosomal glucocerebrosidase activity.
van der Lienden MJC, Aten J, Boot RG, van Eijk M, Aerts JMFG, Kuo CL
J Cell Biochem 2022 May;123(5):893-905. Epub 2022 Mar 21 doi: 10.1002/jcb.30234. PMID: 35312102Free PMC Article
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
Niño MY, Wijgerde M, de Faria DOS, Hoogeveen-Westerveld M, Bergsma AJ, Broeders M, van der Beek NAME, van den Hout HJM, van der Ploeg AT, Verheijen FW, Pijnappel WWMP
Eur J Hum Genet 2021 Mar;29(3):434-446. Epub 2020 Nov 8 doi: 10.1038/s41431-020-00752-2. PMID: 33162552Free PMC Article
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites
Hum Mutat 2019 Nov;40(11):2146-2164. Epub 2019 Aug 7 doi: 10.1002/humu.23878. PMID: 31342611Free PMC Article
Screening for late-onset Pompe disease in Poland.
Jastrzębska A, Potulska-Chromik A, Łusakowska A, Jastrzębski M, Lipowska M, Kierdaszuk B, Kamińska A, Kostera-Pruszczyk A
Acta Neurol Scand 2019 Oct;140(4):239-243. Epub 2019 Jun 18 doi: 10.1111/ane.13133. PMID: 31125121
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C
Clin Chem 2017 Apr;63(4):842-851. Epub 2017 Feb 14 doi: 10.1373/clinchem.2016.259036. PMID: 28196920Free PMC Article

Therapy

Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
van der Meijden JC, Kruijshaar ME, Harlaar L, Rizopoulos D, van der Beek NAME, van der Ploeg AT
J Inherit Metab Dis 2018 Nov;41(6):1205-1214. Epub 2018 Mar 19 doi: 10.1007/s10545-018-0166-3. PMID: 29556838Free PMC Article
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.
Goina E, Peruzzo P, Bembi B, Dardis A, Buratti E
Mol Ther 2017 Sep 6;25(9):2117-2128. Epub 2017 Jun 16 doi: 10.1016/j.ymthe.2017.05.019. PMID: 28629821Free PMC Article
Polymorphisms in metabolism/antioxidant genes may mediate the effect of dietary intake on pancreatic cancer risk.
Jansen RJ, Robinson DP, Stolzenberg-Solomon RZ, Bamlet WR, Tan X, Cunningham JM, Li Y, Rider DN, Oberg AL, Rabe KG, Anderson KE, Sinha R, Petersen GM
Pancreas 2013 Oct;42(7):1043-53. doi: 10.1097/MPA.0b013e3182968e00. PMID: 24051964Free PMC Article

Prognosis

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Chan MY, Jalil JA, Yakob Y, Wahab SAA, Ali EZ, Khalid MKNM, Leong HY, Chew HB, Sivabalakrishnan JB, Ngu LH
Orphanet J Rare Dis 2023 Aug 4;18(1):231. doi: 10.1186/s13023-023-02848-6. PMID: 37542277Free PMC Article
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T, Rojnueangnit K, Noojaroen S, Khongkraparn A, Sawangareetrakul P, Ketudat-Cairns JR, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Svasti J
BMC Med Genet 2019 Sep 11;20(1):156. doi: 10.1186/s12881-019-0878-8. PMID: 31510962Free PMC Article
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites
Hum Mutat 2019 Nov;40(11):2146-2164. Epub 2019 Aug 7 doi: 10.1002/humu.23878. PMID: 31342611Free PMC Article
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
van der Meijden JC, Kruijshaar ME, Harlaar L, Rizopoulos D, van der Beek NAME, van der Ploeg AT
J Inherit Metab Dis 2018 Nov;41(6):1205-1214. Epub 2018 Mar 19 doi: 10.1007/s10545-018-0166-3. PMID: 29556838Free PMC Article
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C
Clin Chem 2017 Apr;63(4):842-851. Epub 2017 Feb 14 doi: 10.1373/clinchem.2016.259036. PMID: 28196920Free PMC Article

Clinical prediction guides

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Chan MY, Jalil JA, Yakob Y, Wahab SAA, Ali EZ, Khalid MKNM, Leong HY, Chew HB, Sivabalakrishnan JB, Ngu LH
Orphanet J Rare Dis 2023 Aug 4;18(1):231. doi: 10.1186/s13023-023-02848-6. PMID: 37542277Free PMC Article
Phenotypic implications of pathogenic variant types in Pompe disease.
Viamonte MA, Filipp SL, Zaidi Z, Gurka MJ, Byrne BJ, Kang PB
J Hum Genet 2021 Nov;66(11):1089-1099. Epub 2021 May 11 doi: 10.1038/s10038-021-00935-9. PMID: 33972680
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites
Hum Mutat 2019 Nov;40(11):2146-2164. Epub 2019 Aug 7 doi: 10.1002/humu.23878. PMID: 31342611Free PMC Article
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
van der Meijden JC, Kruijshaar ME, Harlaar L, Rizopoulos D, van der Beek NAME, van der Ploeg AT
J Inherit Metab Dis 2018 Nov;41(6):1205-1214. Epub 2018 Mar 19 doi: 10.1007/s10545-018-0166-3. PMID: 29556838Free PMC Article
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C
Clin Chem 2017 Apr;63(4):842-851. Epub 2017 Feb 14 doi: 10.1373/clinchem.2016.259036. PMID: 28196920Free PMC Article

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