Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. More than 12 types of GSD are known up-to-date and they are classified based on the related enzyme deficiency involved and the affected tissue. In general, GSD affect primarily the liver, the muscle or both but may also affect the kidney and intestine in which the accumulation of glycogen on liver and kidneys results in hepatomegaly and renomegaly. Each type of GSD has a different impact on the metabolism, but some symptoms seem to remain constant between the types; although each one is treated as a unique case. The most common approach to managing GSD is through specific diet. The simplest and most effective long-term treatment for GSD I (Von Gierke’s disease) is by the use of uncooked cornstarch which is able to decrease the metabolic abnormalities of the disease. Recently, Treatment of GSDIa with AAV-GPE-mediated gene therapy in mice has shown promising results in decreasing the metabolic abnormalities and the risk of chronic complications, suggesting that G6Pase-α gene transfer may be a potential therapeutic approach to the management of human GSDIa. The only prominent viable treatment for GSD II (Pompe disease) is through enzyme replacement by gene therapy. Lately, the efficacy of enzyme replacement therapy has improved clinical outcomes but varies between patients and therefore further research is needed. The main treatment of GSD type III (Cori’s disease) is based on diet, through high-protein but limited carbohydrate intake, which can alleviate and even prevent most symptoms. For GSD type V (McArdle disease) there is no cure or treatment, but symptoms can be kept under control. This mini review paper summarizes the value of dietary therapies in improving the quality of life and survival through minimizing metabolic abnormalities and chronic complications.
PATRIKIOS, I. (2019). GLYCOGEN STORAGE DISEASE TYPES I, II, III AND V – A MINI REVIEW. Journal of Medical Practice and Review. Retrieved from https://everant.in/index.php/jmpr/article/view/15
Chou, Y., Janice, Goo-Young, Kim, Cho, Jun-Ho. 2017. Recent development and gene therapy for glycogen storage disease type Ia. Liver Res. 2017; 1(3): 174–180.
Mohammad Raza, Fehmina Arif, Pirthvi Raj Giyanwani, Saad Azizullah, Sonum Kumari. (2017), Dietary Therapy for Von Gierke’s Disease: A Case Report. Cureus. 2017 Aug; 9(8): e1548. doi: 10.7759/cureus.1548
Lee, Y. M., Jun, H. S., Pan, C. , Lin, S. R., Wilson, L. H., Mansfield, B. C. and Chou, J. Y. (2012), Prevention of hepatocellular adenoma and correction of metabolic abnormalities in murine glycogen storage disease type Ia by gene therapy. Hepatology, 56: 1719-1729. doi:10.1002/hep.25717
Joon Hyun Kwon, Young Mok Lee, Jun-Ho Cho, Goo-Young Kim, Javier Anduaga, Matthew F Starost, Brian C Mansfield, Janice Y Chou. (2017), Liver-directed gene therapy for murine glycogen storage disease type Ib, Human Molecular Genetics, Volume 26, Issue 22, 15 November 2017, Pages 4395–4405, https://doi.org/10.1093/hmg/ddx325
Janice Y. Chou, Goo-Young Kim, Jun-Ho Cho. (2017), Recent development and gene therapy for glycogen storage disease type Ia, Liver Research, Volume 1, Issue 3, 2017, Pages 174-180, ISSN 2542-5684, https://doi.org/10.1016/j.livres.2017.12.001
Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
Ozen Hasan. (2007), Glycogen storage diseases: new perspectives. World J Gastroenterol. 2007;13(18):2541–53
J I Wolfsdorf, R A Plotkin, L M Laffel, J F Crigler. (1990), Continuous glucose for treatment of patients with type 1 glycogen-storage disease: comparison of the effects of dextrose and uncooked cornstarch on biochemical variables, The American Journal of Clinical Nutrition, Volume 52, Issue 6, 1 December 1990, Pages 1043–1050, https://doi.org/10.1093/ajcn/52.6.1043
Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee. (2013), Pompe Disease: Early Diagnosis and Early Treatment Make a Difference, Pediatrics & Neonatology, Volume 54, Issue 4, 2013, Pages 219-227, ISSN 1875-9572, https://doi.org/10.1016/j.pedneo.2013.03.009
Deniz Güngör, Michelle E Kruijshaar, Iris Plug, Ralph B D’Agostino, Marloes LC Hagemans, Pieter A van Doorn, Arnold JJ Reuser, Ans T van der Ploeg. (2013), Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J Rare Dis. 2013;8:49. doi: 10.1186/1750-1172-8-49
Manganelli Fiore, Ruggiero Lucia. (2013), Clinical features of Pompe disease. Acta Myol 2013; 32:82-4
Smith BK, Collins S, Conlon T, Mah C, Lawson LA, Martin D, Fuller DD, Cleaver B, Clement N, Phillips D, Islam S, Dobjia N, Byrne B. (2013), Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes. Human Gene Therapy : 630–640, 2013. http://doi.org/10.1089/hum.2012.250
Yunxiang Zhu, Xuemei Li, Alison Mcvie-Wylie, Canwen Jiang, Beth L. Thurberg, Nina Raben, Robert J. Mattaliano, and Seng H. Cheng. (2005), Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice. Biochem. J. 2005;389:619–628. doi: 10.1042/BJ20050364
Azam Safary, Mostafa Akbarzadeh Khiavi, Rahimeh Mousavi, Jaleh Barar, Mohammad A. Rafi. (2018), Enzyme replacement therapies: what is the best option? Bioimpacts. 2018; 8(3): 153–157. doi: 10.15171/bi.2018.17
Yunxiang Zhu, Ji-Lei Jiang, Nathan K Gumlaw, Jinhua Zhang, Scott D Bercury, Robin J Ziegler, Karen Lee, Mariko Kudo, William M Canfield, Timothy Edmunds, Canwen Jiang, Robert J Mattaliano, Seng H Cheng. (2009), Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease. Mol Ther. 2009 Jun;17(6):954-63. doi: 10.1038/mt.2009.37.
Dagli, A. I., Zori, R. T., McCune, H. , Ivsic, T. , Maisenbacher, M. K. and Weinstein, D. A. (2009), Reversal of glycogen storage disease type IIIa‐related cardiomyopathy with modification of diet. J Inherit Metab Dis, 32: 103-106. doi:10.1007/s10545-009-1088-x
Aditi Dagli, Christiaan P Sentner, and David A. Weinstein. Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet. J Inherit Metab Dis, 2009:103-106
Iglesias Jorquera Elena, Tomás Pujante Paula, Ruiz García Gema, Vargas Acosta Ángel Manuel, Pons Miñano José Antonio. (2018), Liver transplantation in patients with type IIIa glycogen storage disease, cirrhosis and hepatocellular carcinoma. Rev Esp Enferm Dig 2018. doi: 10.17235/reed.2018.5856/2018.
Christiaan P. Sentner, Kadir Caliskan, Wim B. Vletter, G. Peter A. Smit. (2012), Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient. Journal of Inherited Metabolic Disease Rep. 2012; 5: 13–16. doi: 10.1007/8904_2011_111
Christiaan P. Sentner, Irene J. Hoogeveen, David A. Weinstein, René Santer, Elaine Murphy, Patrick J. McKiernan, Ulrike Steuerwald, Nicholas J. Beauchamp, Joanna Taybert, Pascal Laforêt, François M. Petit, Aurélie Hubert, Philippe Labrune, G. Peter A. Smit, Terry G. J. Derks. (2016), Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. Journal of Inherited Metabolic Disease. 2016; 39: 697–704. doi: 10.1007/s10545-016-9932-2
Stryer, L., Berg, J. M., Tymoczko, J. L. & Gatto, G. J., 2015. Biochemistry. 8th Edition ed. 41 Madison Avenue New York, NY 10010: W.H. Freeman and Company.
Benjamin Weinhaus, Sunny Guin. (2017), Involvement of glycogen debranching enzyme in bladder cancer. Biomedical Reports. 2017 Jun; 6(6): 595–598. doi: 10.3892/br.2017.907
Mehdi Zobeiri. (2017), Liver Transplantation in a Myopathic Patient with Glycogen Storage Disease Type IIIa and Decompensated Cirrhosis. Int J Organ Transplant Med. 2017; 8(4): 217–220.
Noemí de Luna, Astrid Brull, Josep Maria Guiu, Alejandro Lucia, Miguel Angel Martin, Joaquin Arenas, Ramon Martí, Antoni L. Andreu, and Tomàs Pinós. (2015), Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro. Dis Model Mech. 2015 May 1; 8(5): 467–472. doi: 10.1242/dmm.020230
Scalco, Renata Siciliani, Chatfield, Sherryl, Godfrey, Richard, Pattni, Jatin, Ellerton, Charlotte, Beggs, Andrea, Brady, Stefen, Wakelin, Andrew, Holton, Janice L, & Quinlivan, Ros. (2014), From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease. Arquivos de Neuro-Psiquiatria, 72(7), 538-541. https://dx.doi.org/10.1590/0004-282X20140062
Gisela Nogales-Gadea, Richard Godfrey, Alfredo Santalla, Jaume Coll-Cantí, Guillem Pintos-Morell, Tomàs Pinós, Joaquín Arenas, Miguel Angel Martín, Alejandro Lucia. (2016), Genes and exercise intolerance: insights from McArdle disease. Physiological Genomics. 2016 February; 48(2): 93-100. https://doi.org/10.1152/physiolgenomics.00076.2015
Martín MA, Lucía A, Arenas J, et al. Glycogen Storage Disease Type V. 2006 Apr 19 [Updated 2014 Jun 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1344/
J.McC. Howell, K.R. Walker, L. Davies, E. Dunton, A. Everaardt, N. Laing, G. Karpati, (2008), Adenovirus and adeno-associated virus-mediated delivery of human myophosphorylase cDNA and LacZ cDNA to muscle in the ovine model of McArdle’s disease: Expression and re-expression of glycogen phosphorylase, Neuromuscular Disorders, Volume 18, Issue 3, 2008, Pages 248-258, ISSN 0960-8966, https://doi.org/10.1016/j.nmd.2007.10.006.
G. Pari, M.M. Crerar, J. Nalbantoglu, E. Shoubridge, A. Jani, S. Tsujino, S. Shanske, S. DiMauro, J. McC. Howell, G. Karpati. (1999), Myophosphorylase gene transfer in McArdle’s disease myoblasts in vitro. Neurology Oct 1999; 53(6) 1352; DOI: 10.1212/WNL.53.6.1352
Nogales‐Gadea, G. , Brull, A. , Santalla, A. , Andreu, A. L., Arenas, J. , Martín, M. A., Lucia, A. , Luna, N. , Pinós, T. (2015), McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene. Human Mutation, 36: 669-678. doi:10.1002/humu.22806
Ronald G. Haller. (2000), Treatment of McArdle Disease. Arch Neurol. 2000;57(7):923-924. doi:10.1001/archneur.57.7.923
Lucia A, Ruiz JR, Santalla A, et al Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry J Neurol Neurosurg Psychiatry 2012;83:322-328.
