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Archives of Medical Science
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1/2018
vol. 14
 
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abstract:
Letter to the Editor

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

Edyta Szymańska, Sylwia Szymańska, Grażyna Truszkowska, Elżbieta Ciara, Maciej Pronicki, Yoon S. Shin, Teodor Podskarbi, Alina Kępka, Mateusz Śpiewak, Rafał Płoski, Zofia T. Bilińska, Dariusz Rokicki

Arch Med Sci 2018; 14, 1: 237–247
Online publish date: 2017/12/19
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Glycogen storage disease (GSD) type IV (Andersen’s disease, amylopectinosis, polyglucosan body disease) is a rare inherited disorder of carbohydrate metabolism. The disease is caused by autosomal recessive mutations in the GBE1 gene (OMIM 607839), which leads to glycogen branching enzyme (GBE) deficiency. This is a critical enzyme in the production of both muscle and liver glycogen. Due to its decreased activity, abnormal long branched molecules of low solubility are formed. These deposits lead to glycogen precipitation in the liver, and subsequently build up in the body tissue, especially the heart and liver. The severity of the disease varies according to the amount of enzyme produced.
In adults, the activity of GBE is higher and symptoms do not appear until later in life [1].
Therefore, clinical manifestations of GSD IV consist of different subtypes with variable ages of onset, severity, and clinical features. The fatal perinatal neuromuscular subtype, which presents in utero with decreased fetal movements, polyhydramnios, and fetal hydrops, and congenital neuromuscular subtype beginning in the newborn period with profound hypotonia, respiratory distress, and dilated cardiomyopathy, both result in death in the neonatal period. The classic progressive hepatic subtype presents with rapidly developing failure to thrive following birth. Clinical manifestations include hepatomegaly, liver dysfunction, and progressive liver cirrhosis, as well as hypotonia, and cardiomyopathy. In this case, death due to liver failure usually occurs by the age of 5 years unless liver transplantation (LTx) is performed. The non-progressive hepatic subtype presents with hepatomegaly, liver dysfunction, myopathy, and hypotonia. However, individuals with this type usually do not show progression of liver disease, and may not even have cardiac, skeletal muscle, or neurologic involvement. The childhood neuromuscular subtype, which is the rarest one, has most variable course. Its onset ranges from the second life decade with a mild disease course to a more severe, progressive course resulting in death in the third decade [2, 3].
The disease diagnosis and management is thus multidisciplinary, and should include specialists in metabolic disorders, hepatology, neurology, and nutrition, as well as in medical or biological genetics.
We report three cases of Polish patients with mutations in the GBE1 gene with various clinical courses of their disease each....


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references:
Li SC, Chen CM, Goldstein JL, et al. Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. J Inherit Metab Dis 2010; 33: 83-90.
Magoulas PL, El-Hattab AW. Glycogen storage disease type IV. In: GeneReviews® [Internet]. Pagon RA, Adam MP, Ardinger HH, et al. (eds). University of Washington, Seattle (WA) 1993-2016.
Kakkar A, Sharma MC, Nambirajan A, Sarkar C, Suri V, Gulati S. Glycogen storage disorder due to glycogen branching enzyme (GBE) deficiency: a diagnostic dilemma. Ultrastruct Pathol 2015; 39: 293-7.
Brown BI, Brown DH. Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. Proc Natl Acad Sci USA 1966; 56: 725-9.
Brown BI, Brown DH. Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease. Am J Hum Genet 1989; 44: 378-81.
Nase-Hueppmeier S, Kunze KP, Sigmund M, Schroeder M, Shin YS. A new variant of type IV glycogenosis with primary cardiac manifestation and complete brancher enzyme deficiency. Eur Heart J 1995; 21: 31-7.
Shin YS, Steigüber H, Klemm P, Endres W. Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes. J Inher Metab Dis 1988; 11 (Suppl 2): 252-4.
Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, et al. Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes. Eur J Paediatr Neurol 2016; 20: 462-73.
Bao Y, Kishnani P, Wu JY, Chen YT. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest 1996; 97: 941-8.
Bruno C, van Diggelen OP, Cassandrini D, et al. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology 2004; 63: 1053-8.
Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med 2002; 2: 177-88.
Hizarcioglu-Gulsen H, Yuce A, Akcoren Z, et al. A rare cause of elevated chitotriosidase activity: glycogen storage disease type IV. JIMD Rep 2014; 17: 63-6.
Kanneganti M, Kamba A, Mizoguchi E. Role of chitotriosidase (chitinase 1) under normal and disease conditions. J Epithel Biol Pharmacol 2012; 5: 1-9.
Davis MK, Weinstein DA. Liver transplantation in children with glycogen storage disease: controversies and evaluation of the risk/benefit of this procedure. Pediatr Transplant 2008; 12: 137-45.
Matern D, Starzl TE, Arnaout W, et al. Liver transplantation for glycogen storage disease types I, III, and IV. Eur J Pediatr 1999; 158 Suppl 2: S43-8.
Iyer SG, Chen CL, Wang CC, et al. Long-term results of living donor liver transplantation for glycogen storage disorders in children. Liver Transpl 2007; 13: 848-52.
Ban HR, Kim KM, Jang JY, et al. Living donor liver transplantation in a Korean child with glycogen storage disease type IV and a GBE1 mutation. Gut Liver 2009; 3: 60-3.
Brambilla A, Mannarino S, Pretese R, et al. Improvement of cardiomyopathy after high-fat diet in two siblings with glycogen storage disease type III. JIMD Rep 2014; 17: 91-5.
Valayannopoulos V, Bajolle F, Arnoux F, et al. Successful treatment of severe cardiomyopathy in glycogen storage disease type III with D,L-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res 2011; 70: 638-41.
Greene HL, Brown BI, McClenathan DT, Agostini RM Jr, Taylor SR. A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease. Hepatology 1988; 8: 302-6.
McConkie-Rosell A, Wilson C, Piccoli DA, et al. Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. J Inherit Metab Dis 1996; 19: 51-8.
Sliwinska A, Kasinska MA, Drzewoski J. MicroRNAs and metabolic disorders – where are we heading? Arch Med Sci 2017; 13: 885-96.
Aksu T, Colak A, Tufekcioglu O. Cardiac involvement in glycogen storage disease type IV: two cases and the two ends of a spectrum. Case Rep Med 2012; 2012: 764286.
Pilichou K, Thiene G, Bauce B, et al. Arrhythmogenic cardiomyopathy. Orphanet J Rare Dis 2016; 11: 33.
Rapezzi C, Arbustini E, Caforio AL, et al. Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2013; 34: 1448-58.
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