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Journal articles on the topic 'Glycogen storage disease type II'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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1

Li, Hui-Ping, Wan-Mu Xie, Xu Huang, et al. "Pulmonary Hypertension in Glycogen Storage Disease Type II." Chinese Medical Journal 131, no. 11 (2018): 1375–76. http://dx.doi.org/10.4103/0366-6999.232792.

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2

Sahin, Mustafa, and Adre J. du Plessis. "Hydrocephalus associated with glycogen storage disease type II (pompe’s disease)." Pediatric Neurology 21, no. 3 (1999): 674–76. http://dx.doi.org/10.1016/s0887-8994(99)00064-8.

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3

Schoser, Benedikt, Victoria Hill, and Nina Raben. "Therapeutic approaches in glycogen storage disease type II/pompe disease." Neurotherapeutics 5, no. 4 (2008): 569–78. http://dx.doi.org/10.1016/j.nurt.2008.08.009.

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4

Walvoort, H. C. "Glycogen storage disease type II in the Lapland dog." Veterinary Quarterly 7, no. 3 (1985): 187–90. http://dx.doi.org/10.1080/01652176.1985.9693981.

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5

Gaze, David C., Graham J. Lawson, Adam Harris, and Paul O. Collinson. "Evidence of cardiomyocyte necrosis in glycogen storage disease type II." Annals of Clinical Biochemistry 44, no. 1 (2007): 86–88. http://dx.doi.org/10.1258/000456307779596048.

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6

Angelini, Corrado. "Nutritional Recommendations for Patients with Glycogen Storage Disease Type II." Clinical Therapeutics 30 (January 2008): S21. http://dx.doi.org/10.1016/s0149-2918(08)80029-x.

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7

Shin, Y. S., M. Rieth, J. Tausenfreund, and W. Endres. "First Trimester Diagnosis of Glycogen Storage Disease Type II and Type III." Journal of Inherited Metabolic Disease 12, S2 (1989): 289–91. http://dx.doi.org/10.1007/bf03335401.

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8

Kishnani, Priya S., Baodong Sun, and Dwight D. Koeberl. "Gene therapy for glycogen storage diseases." Human Molecular Genetics 28, R1 (2019): R31—R41. http://dx.doi.org/10.1093/hmg/ddz133.

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AbstractThe focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficiency of specific enzymes involved in the storage and retrieval of glucose in the body. Broadly, GSDs can be divided into types that affect liver or muscle or both tissues. For example, glucose-6-phosphatase (G6Pase) deficiency in GSD type Ia (GSD Ia) affects primarily the liver and kidney, while acid α-glucosidase (GAA) deficiency in GSD II causes primarily muscle disease. The lack of specific therapy for the GSDs has driven efforts to develop new therapies for t

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9

Fu Liong, Hiew, Siti Aishah Abdul Wahab, Yusnita Yakob, Ngu Lock Hock, Wong Kum Thong, and Shanthi Viswanathan. "Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease) with a Novel Mutation: A Malaysian Experience." Case Reports in Neurological Medicine 2014 (2014): 1–6. http://dx.doi.org/10.1155/2014/926510.

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Pompe’s disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acidα-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal muscles. We present a case of adult-onset Pompe’s disease with progressive proximal muscles weakness over 5 years and respiratory failure on admission, requiring prolonged mechanical ventilation. Electromyography showed evidence of myopathic process with small amplitudes, polyphasic motor unit action potentia

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10

Chen, Yuan-Tsong, and Andrea Amalfitano. "Towards a molecular therapy for glycogen storage disease type II (Pompe disease)." Molecular Medicine Today 6, no. 6 (2000): 245–51. http://dx.doi.org/10.1016/s1357-4310(00)01694-4.

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11

Bosman, Linelot, Sanne E. Hoeks, Antonia González Candel, Hannerieke J. M. van den Hout, Ans T. van der Ploeg, and Lonneke M. Staals. "Perioperative management of children with glycogen storage disease type II-Pompe disease." Pediatric Anesthesia 28, no. 5 (2018): 428–35. http://dx.doi.org/10.1111/pan.13361.

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12

Ausems, M. G. E. M., P. Lochman, O. P. van Diggelen, H. K. P. van Amstel, A. J. J. Reuser, and J. H. J. Wokke. "A diagnostic protocol for adult-onset glycogen storage disease type II." Neurology 52, no. 4 (1999): 851. http://dx.doi.org/10.1212/wnl.52.4.851.

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13

Angelini, Corrado, Claudio Semplicini, Paola Tonin, et al. "Progress in enzyme replacement therapy in glycogen storage disease type II." Therapeutic Advances in Neurological Disorders 2, no. 3 (2009): 143–53. http://dx.doi.org/10.1177/1756285609103324.

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14

Bodamer, Olaf A., Dorothea Haas, Monique M. Hermans, Arnold J. Reuser, and Georg F. Hoffmann. "l-alanine supplementation in late infantile glycogen storage disease type II." Pediatric Neurology 27, no. 2 (2002): 145–46. http://dx.doi.org/10.1016/s0887-8994(02)00413-7.

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15

Papadimas, G. K., K. Spengos, C. Papadopoulos, and P. Manta. "Late Onset Glycogen Storage Disease Type II: Pitfalls in the Diagnosis." European Neurology 67, no. 2 (2012): 65–68. http://dx.doi.org/10.1159/000334398.

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16

Meena, Naresh K., and Nina Raben. "Pompe Disease: New Developments in an Old Lysosomal Storage Disorder." Biomolecules 10, no. 9 (2020): 1339. http://dx.doi.org/10.3390/biom10091339.

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Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen. The discovery that acid alpha-glucosidase resides in the lysosome gave rise to the concept of lysosomal storage diseases, and Pompe disease became the first among many monogenic diseases caused by loss of lysosomal enzyme activities. The only disease-specific treatment available for Pompe disease patients is enzyme replacement therapy (ERT) whic

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17

Fateen, Ekram M., Hala S. Hamza, Dina M. Abo-el Matty, et al. "Biochemical study of glycogen storage disease type II (Pompe disease) in Egyptian infants." Middle East Journal of Medical Genetics 6, no. 2 (2017): 75–81. http://dx.doi.org/10.1097/01.mxe.0000521019.02657.75.

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18

Donaldo, Emiliano Silva López, Irlanda Méndez Ynostroza Sussan, Alejandra Solano Mendoza Alma, Paola Contreras Sáenz Claudia, Isabel Díaz de León Guzmán Ana, and Villaseñor Alcalá Noemí. "Pediatric Considerations in Pompe Disease: A Comprehensive Review." INTERNATIONAL JOURNAL OF MEDICAL SCIENCE AND CLINICAL RESEARCH STUDIES ISSN 04, no. 04 (2024): 651–54. https://doi.org/10.5281/zenodo.10964704.

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Pompe disease, also known as glycogen storage disease type II, is a rare inherited disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), leading to the accumulation of glycogen in various tissues, particularly muscles. While Pompe disease can affect individuals of all ages, its presentation and management in pediatric patients present unique challenges. This review aims to provide a comprehensive overview of the clinical manifestations, diagnosis, and management of Pompe disease in pediatric populations. Special considerations in the areas of respiratory support, nutritio

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19

Wang, Shu-Ching Mary, Dennis H. Dowhan, Natalie A. Eriksson, and George E. O. Muscat. "CARM1/PRMT4 is necessary for the glycogen gene expression programme in skeletal muscle cells." Biochemical Journal 444, no. 2 (2012): 323–31. http://dx.doi.org/10.1042/bj20112033.

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CARM1 (co-activator-associated arginine methyltransferase 1)/PRMT4 (protein arginine methyltransferase 4), functions as a co-activator for transcription factors that are regulators of muscle fibre type and oxidative metabolism, including PGC (peroxisome-proliferator-activated receptor γ co-activator)-1α and MEF2 (myocyte enhancer factor 2). We observed significantly higher Prmt4 mRNA expression in comparison with Prmt1–Prmt6 mRNA expression in mouse muscle (in vitro and in vivo). Transfection of Prmt4 siRNA (small interfering RNA) into mouse skeletal muscle C2C12 cells attenuated PRMT4 mRNA an

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20

Akalin, F., G. Alper, F. Ouztunç, E. KotilogUlu, and S. Turan. "A case of glycogen storage disease type II with double aortic arch." Acta Paediatrica 89, no. 7 (2000): 884–86. http://dx.doi.org/10.1111/j.1651-2227.2000.tb00399.x.

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21

Bosone, Ivana, Liliana Vercelli, Tiziana Mongini, et al. "Glycogen Storage Disease Type II Diagnosed in a 74-Year-Old Woman." Journal of the American Geriatrics Society 52, no. 6 (2004): 1034–35. http://dx.doi.org/10.1111/j.1532-5415.2004.52277_13.x.

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22

Nascimbeni, A. C., M. Fanin, E. Masiero, C. Angelini, and M. Sandri. "Glycogen Storage Disease Type II (GSDII): Is Autophagy Beneficial or Detrimental? (PD6.002)." Neurology 78, Meeting Abstracts 1 (2012): PD6.002. http://dx.doi.org/10.1212/wnl.78.1_meetingabstracts.pd6.002.

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23

Gayathri, N., T. C. Yasha, S. Vani, A. B. Taly, A. Nalini, and S. K. Shankar. "Late onset glycogen storage disease Type II with “reducing body”-like inclusions." Clinical Neuropathology 29, no. 01 (2010): 36–40. http://dx.doi.org/10.5414/npp29036.

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24

Ausems, M. G. E. M., K. ten Berg, M. A. Kroos, et al. "Glycogen Storage Disease Type II: Birth Prevalence Agrees with Predicted Genotype Frequency." Public Health Genomics 2, no. 2-3 (1999): 91–96. http://dx.doi.org/10.1159/000016192.

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25

Ravaglia, Sabrina, Cesare Danesino, Anna Pichiecchio, et al. "Enzyme replacement therapy in severe adult-onset glycogen storage disease type II." Advances in Therapy 25, no. 8 (2008): 820–29. http://dx.doi.org/10.1007/s12325-008-0086-y.

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26

Raben, Nina, Eunice Lee, Laura Lee, Rochelle Hirschhorn, and Paul H. Plotz. "Novel mutations in African American patients with glycogen storage disease type II." Human Mutation 13, no. 1 (1999): 83–84. http://dx.doi.org/10.1002/(sici)1098-1004(1999)13:1<83::aid-humu13>3.0.co;2-2.

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27

Merk, T., T. Wibmer, C. Schumann, and S. Krüger. "Glycogen storage disease type II (Pompe disease) - influence of enzyme replacement therapy in adults." European Journal of Neurology 16, no. 2 (2009): 274–77. http://dx.doi.org/10.1111/j.1468-1331.2008.02377.x.

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28

Ullrich, K., H. Gröbe, R. Korinthenberg, and D. B. von Bassewitz. "Severe course of glycogen storage disease type II (Pompe's Disease) without development of cardiomegalia." Pathology - Research and Practice 181, no. 5 (1986): 627–30. http://dx.doi.org/10.1016/s0344-0338(86)80164-9.

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29

Walvoort, H. C., J. A. M. A. Dormans, and T. S. G. A. M. van den Ingh. "Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease)." Journal of Inherited Metabolic Disease 8, no. 1 (1985): 38–46. http://dx.doi.org/10.1007/bf01805484.

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30

Huie, Maryann L., Rochelle Hirschhorn, Agnes S. Chen, Frank Martiniuk, and Nan Zhong. "Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)." Human Mutation 4, no. 4 (1994): 291–93. http://dx.doi.org/10.1002/humu.1380040410.

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31

Cottrill, Carol M., Gregory L. Johnson, and Jacqueline A. Noonan. "Parental Genetic Contribution to Mode of Presentation in Pompe Disease." Pediatrics 79, no. 3 (1987): 379–81. http://dx.doi.org/10.1542/peds.79.3.379.

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Echocardiograms were performed on parents of five infants with Pompe disease (glycogen storage disease, type II). Three of the infants had presented with congestive cardiomyopathy and two with dynamic muscular subaortic stenosis. No heart murmurs were audible in any of the parents of the five infants. The parents of the three infants without left ventricular outflow tract obstruction had normal echocardiographic results, whereas one parent of each of the infants with left ventricular outflow obstruction had asymmetric septal hypertrophy. The association between left ventricular outflow obstruc

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32

Rakib, Tofazzal Md, Md Shafiqul Islam, Shigeki Tanaka, et al. "Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)." Animals 13, no. 8 (2023): 1336. http://dx.doi.org/10.3390/ani13081336.

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Glycogen storage disease type II (Pompe disease: PD) is an autosomal recessively inherited fatal genetic disorder that results from the deficiency of a glycogen hydrolyzing enzyme, acid α-glucosidase encoded by the GAA gene. Here, we describe the molecular basis of genetic defects in an 8-month-old domestic short-haired cat with PD. The cat was previously diagnosed with PD based on the clinical and pathological findings of hypertrophic cardiomyopathy and excessive accumulation of glycogen in the cardiac muscles. Sanger sequencing was performed on 20 exons of the feline GAA gene using genomic D

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33

Ing, Richard J., D. Ryan Cook, Resai A. Bengur, et al. "Anaesthetic management of infants with glycogen storage disease type II: a physiological approach." Pediatric Anesthesia 14, no. 6 (2004): 514–19. http://dx.doi.org/10.1111/j.1460-9592.2004.01242.x.

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34

Kleijer, Wim J., Magna Van Der Kraan, Marian A. Kroos, et al. "Prenatal Diagnosis of Glycogen Storage Disease Type II: Enzyme Assay or Mutation Analysis?" Pediatric Research 38, no. 1 (1995): 103–6. http://dx.doi.org/10.1203/00006450-199507000-00018.

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35

Okumiya, Toshika, Joke L. M. Keulemans, Marian A. Kroos, et al. "A new diagnostic assay for glycogen storage disease type II in mixed leukocytes." Molecular Genetics and Metabolism 88, no. 1 (2006): 22–28. http://dx.doi.org/10.1016/j.ymgme.2005.10.016.

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36

Hesselink, Reinout P., Anton J. M. Wagenmakers, Maarten R. Drost, and Ger J. Van der Vusse. "Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II." Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1637, no. 2 (2003): 164–70. http://dx.doi.org/10.1016/s0925-4439(02)00229-6.

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37

Nascimbeni, Anna Chiara, Marina Fanin, Eva Masiero, Corrado Angelini, and Marco Sandri. "Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients." Autophagy 8, no. 11 (2012): 1697–700. http://dx.doi.org/10.4161/auto.21691.

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38

Joshi, P. R., D. Gläser, S. Schmidt, et al. "Molecular diagnosis of German patients with late-onset glycogen storage disease type II." Journal of Inherited Metabolic Disease 31, S2 (2008): 261–65. http://dx.doi.org/10.1007/s10545-008-0820-2.

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39

Feng, Qi, Meng Qiao Zhang, Chun Xiao Ba, and Ying Qian Zhang. "Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports." Medicine 103, no. 35 (2024): e39534. http://dx.doi.org/10.1097/md.0000000000039534.

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Objective: Clinical and genetic mutation analysis was performed on 5 infantile glycogen storage disease type II children in Chinese mainland. Methods: Clinical data of 5 children with infantile-type glycogen storage disease type II due to the acidic α-glucosidase (GAA) gene variants diagnosed and treated at Hebei Provincial Children’s Hospital from January 2018 to April 2020 were retrospectively analyzed. Results: Among the 5 cases, 1 was female and 4 were male, and the age at first diagnosis was from 2 months to 7 months. The first symptoms of all 5 cases showed progressive muscle weakness, h

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40

Mishra, Kumudesh, and Or Kakhlon. "Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs)." Biomolecules 14, no. 9 (2024): 1096. http://dx.doi.org/10.3390/biom14091096.

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Glycogen storage disorders (GSDs) are a group of inherited metabolic disorders characterized by defects in enzymes involved in glycogen metabolism. Deficiencies in enzymes responsible for glycogen breakdown and synthesis can impair mitochondrial function. For instance, in GSD type II (Pompe disease), acid alpha-glucosidase deficiency leads to lysosomal glycogen accumulation, which secondarily impacts mitochondrial function through dysfunctional mitophagy, which disrupts mitochondrial quality control, generating oxidative stress. In GSD type III (Cori disease), the lack of the debranching enzym

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41

Geddes, R., та J. A. Taylor. "Lysosomal glycogen storage induced by Acarbose, a 1,4-α-glucosidase inhibitor". Biochemical Journal 228, № 2 (1985): 319–24. http://dx.doi.org/10.1042/bj2280319.

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The 1,4-alpha-glucosidase inhibitor. Acarbose, when injected intraperitoneally disturbs liver lysosome metabolism, causing distinct and persistent inhibition of the enzymes and acute disturbances of lysosomal glycogen metabolism. A feedback control mechanism appears to operate, affecting cytosolic carbohydrate metabolism. A model is suggested for the adult form of lysosomal storage disease. The biochemical effects closely resemble those occurring in glycogenosis type II (Pompe's disease), and these have been confirmed by electron microscopy.

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42

Č ítek, J., V. Ř ehout, L. Večerek, and J. Hájková. "Genotyping Glycogen Storage Disease Type II and Type V in Cattle Reared in the Czech Republic." Journal of Veterinary Medicine Series A 54, no. 5 (2007): 257–59. http://dx.doi.org/10.1111/j.1439-0442.2007.00931.x.

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43

Seol, Jaehee, Seyong Jung, Hong Koh, Jowon Jung, and Yunkoo Kang. "Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center." International Journal of Environmental Research and Public Health 20, no. 3 (2023): 2191. http://dx.doi.org/10.3390/ijerph20032191.

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Glycogen storage disease (GSD) is a hereditary metabolic disorder caused by enzyme deficiency resulting in glycogen accumulation in the liver, muscle, heart, or kidney. GSD types II, III, IV, and IX are associated with cardiac involvement. However, cardiac manifestation in other GSD types is unclear. This study aimed to describe whether energy deprivation and the toxic effects of accumulated glycogen affect the heart of patients with GSD. We evaluated the left ventricle (LV) wall mass, LV systolic and diastolic function and myocardial strain with conventional echocardiography and two-dimension

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44

&NA;. "Alglucosidase alfa effectively improves functional aspects of late-onset glycogen storage disease type II." Inpharma Weekly &NA;, no. 1619 (2008): 15. http://dx.doi.org/10.2165/00128413-200816190-00039.

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45

Nascimbeni, A. C., M. Fanin, E. Masiero, C. Angelini, and M. Sandri. "The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)." Cell Death & Differentiation 19, no. 10 (2012): 1698–708. http://dx.doi.org/10.1038/cdd.2012.52.

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46

Dagnino, Fabio, Marina Stroppiano, Stefano Regis, Gloria Bonuccelli, and Mirella Filocamo. "Evidence for a Founder Effect in Sicilian Patients with Glycogen Storage Disease Type II." Human Heredity 50, no. 6 (2000): 331–33. http://dx.doi.org/10.1159/000022938.

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47

Bodamer, O. A. F., D. Halliday, and J. V. Leonard. "The effects of L-alanine supplementation in late-onset glycogen storage disease type II." Neurology 55, no. 5 (2000): 710–12. http://dx.doi.org/10.1212/wnl.55.5.710.

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48

KURIYAMA, Masaru, Ryo-ichi HIWATARI, Toshio ARIGA, et al. "Neutral Oligosaccharides in the Urine of a Patient with Glycogen Storage Disease Type II." Journal of Biochemistry 98, no. 4 (1985): 1041–47. http://dx.doi.org/10.1093/oxfordjournals.jbchem.a135350.

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49

Park, Young-Eun, Kyu-Hyun Park, Chang-Hoon Lee, Cheol-Min Kim, and Dae-Seong Kim. "Two new missense mutations of GAA in late onset glycogen storage disease type II." Journal of the Neurological Sciences 251, no. 1-2 (2006): 113–17. http://dx.doi.org/10.1016/j.jns.2006.09.012.

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50

Vorgerd, M., Barbara Burwinkel, Heinz Reichmann, Jean-Pierre Malin, and Manfred W. Kilimann. "Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients." neurogenetics 1, no. 3 (1998): 205–11. http://dx.doi.org/10.1007/s100480050030.

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