Zusammenfassung
Disorders of glycogen metabolism primarily involve liver and/or muscle although there are rare neurological phenotypes associated with some enzyme deficiencies. Most are referred to by a roman numeral or by the specific enzyme that is deficient. The use of eponyms is now largely historical. The hepatic glycogenosis generally cause hepatomegaly (apart from GSD Oa) and fasting hypoglycaemia whereas the muscle disorders are associated with skeletal and/or cardiomyopathy. The clinical phenotypes are extremely heterogeneous.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI (2006) Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. Mol Genet Metab 87:284–288
Froissart R, Piraud M, Boudjemline A et al. (2011) Glucose-6-phosphatase deficiency. Orphanet J Rare Dis 6:27
Bandsma RHJ, Prinsen BH, van Der Velden M de S et al. (2008) Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a. Pediatr Res 63:702–707
Jun HS, Weinstein DA, Lee YM, Mansfield BC, Chou JY (2014) Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. Blood 123:2843–2853
Rake JP, Visser G, Labrune P et al. (2002) Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 161: S112–119
Kishnani PS, Austin SL, Abdenur JE et al. (2014) Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med 1–29
Dixon M, MacDonald A, Staffort J, White F, Portnoi P (2014) Disorders of Carbohydrate Metabolism. In: Shaw V (ed) Clin Paediatr, 4th edn. Oxford Boston Wiley-Blackwell
Bhattacharya K, Mundy H, Lilburn MF et al. (2015) A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study. Orphanet J Rare Dis 10:18
Ross KM, Brown LM, Corrado MM et al. (2015) Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I. JIMD Rep [2015 Nov 3. Epub ahead of print]
Shah KK, O’Dell SD (2013) Effect of dietary interventions in the maintenance of normoglycaemia in glycogen storage disease type 1a: a systematic review and meta-analysis. J Hum Nutr Diet 26:329–339
Derks TGJ, Martens DH, Sentner CP et al. (2013) Dietary treatment of glycogen storage disease type Ia: uncooked cornstarch and/or continuous nocturnal gastric drip-feeding? Mol Genet Metab 109:1–2
Hochuli M, Christ E, Meienberg F et al (2015) Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study. J Inherit Metab Dis 38:1093–1098
White FJ, Jones SA (2015) The use of continuous glucose monitoring in the practical management of glycogen storage disorders. J Inherit Metab Dis 34:631–642
Beegle RD, Brown LM, Weinstein DA (2015) Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. JIMD Rep 18:23–32
Chiu L-Y, Kishnani PS, Chuang T-P et al. (2014) Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers. J Gastroenterol 49:1274–1284
Calderaro J, Labrune P, Morcrette G et al. (2013) Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. J Hepatol 58:350–357
Kishnani PS, Chuang T-P, Bali D et al. (2009) Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. Hum Mol Genet 18:4781–4790
Davis MK, Rufo PA, Polyak SF, Weinstein DA (2008) Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib. J Inherit Metab Dis 31:S505–509
Lawrence NT, Chengsupanimit T, Brown LM, Weinstein DA (2015) High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type Ia. JIMD Rep 24:123–128
Melis D, Cozzolino M, Minopoli G et al. (2015) Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study. J Pediatr 166:1079–1082
Visser G, Rake JP, Labrune P et al. (2002) Consensus guidelines for management of glycogen storage disease type 1b – European Study on Glycogen Storage Disease Type 1. Eur J Pediatr 161:S120–123
Melis D, Minopoli G, Balivo F et al. (2015) Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib. JIMD Rep [cited 2015 Nov 7. Epub ahead of print]
Banugaria SG, Austin SL, Boney A, Weber TJ, Kishnani PS (2010) Hypovitaminosis D in glycogen storage disease type I. Mol Genet Metab 99:434–437
Clar J, Gri B, Calderaro J et al. (2014) Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy. Kidney Int 86:747–756
Boers SJB, Visser G, Smit PGPA, Fuchs SA (2014). Liver transplantation in glycogen storage disease type I. Orphanet J Rare Dis 9:47
Martens DHJ, Rake JP, Schwarz M et al. (2008) Pregnancies in glycogen storage disease type Ia. Am J Obstet Gynecol 198:646.e1–7
Dagli AI, Lee PJ, Correia CE et al. (2010) Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries. J Inherit Metab Dis 33:S151–157
Sechi A, Deroma L, Lapolla A et al. (2013) Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. J Inherit Metab Dis 36:83–89
Bernier AV, Sentner CP, Correia CE et al. (2008) Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic control. J Inherit Metab Dis 31:729–732
Shen JJ, Chen YT (2002). Molecular characterization of glycogen storage disease type III. Curr Mol Med 2:167–175
Kishnani PS, Austin SL, Arn P et al. (2010) Glycogen storage disease type III diagnosis and management guidelines. Genet Med 12:446–463
Derks TGJ, Smit GPA (2015). Dietary management in glycogen storage disease type III: what is the evidence? J Inherit Metab Dis 38:545–550
Ramachandran R, Wedatilake Y, Coats C et al. (2012) Pregnancy and its management in women with GSD type III – a single centre experience. J Inherit Metab Dis 35:245–251
Aksu T, Colak A, Tufekcioglu O (2012). Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum. Case Rep Med 764286
Li S-C, Chen C-M, Goldstein JL et al. (2010) Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. J Inherit Metab Dis 33:S83–90
Akman HO, Karadimas C, Gyftodimou Y et al. (2006) Prenatal diagnosis of glycogen storage disease type IV. Prenat Diagn 26:951–951
Davis MK, Weinstein DA (2008) Liver transplantation in children with glycogen storage disease: controversies and evaluation of the risk/benefit of this procedure. Pediatr Transplant 12:137–145
Willot S, Marchand V, Rasquin A, Alvarez F, Martin SR (2010) Systemic progression of type IV glycogen storage disease after liver transplantation. J Pediatr Gastroenterol Nutr 51:661–664
Roscher A, Patel J, Hewson S et al. (2014) The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. Mol Genet Metab 113:171–176
Manzia TM, Angelico R, Toti L et al. (2011) Glycogen storage disease type Ia and VI associated with hepatocellular carcinoma: two case reports. Transplant Proc 43:1181–1183
Hoogeveen IJ, van der Ende RM, van Spronsen FJ et al. (2015) Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease. JIMD Rep [cited 2015 Nov 29. Epub ahead of print]
Beauchamp NJ, Taybert J, Champion MP et al. (2007) High frequency of missense mutations in glycogen storage disease type VI. J Inherit Metab Dis 30:722–734
Goldstein J, Austin S, Kishnani P et al. (2011) Phosphorylase Kinase Deficiency. GeneReviews [Internet]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK55061/
Bali DS, Goldstein JL, Fredrickson K et al. (2014) Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene. Mol Genet Metab 111:309–313
Burwinkel B, Scott JW, Bührer C et al. (2005) Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet 76:1034–1049
Tonin P, Lewis P, Servidei S, DiMauro S (1990). Metabolic causes of myoglobinuria. Ann Neurol 27:181–185
Nadaj-Pakleza AA, Vincitorio CM, Laforêt P et al. (2009) Permanent muscle weakness in McArdle disease. Muscle Nerve 40:350–357
Martín MA, Rubio JC, Wevers RA et al. (2004) Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle’s disease. Ann Hum Genet 68:17–22
Bartram C, Edwards RH, Clague J, Beynon RJ (1993) McArdle’s disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Hum Mol Genet 2:1291–1293
el-Schahawi M, Tsujino S, Shanske S, DiMauro S (1996) Diagnosis of McArdle’s disease by molecular genetic analysis of blood. Neurology 47:579–580
Martinuzzi A, Sartori E, Fanin M et al. (2003) Phenotype modulators in myophosphorylase deficiency. Ann Neurol 53:497–502
Hogrel J-Y, van den Bogaart F, Ledoux I et al. (2015) Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V. Eur J Neurol 22:933–940
Hogrel JY, Laforêt P, Ben Yaou R et al. (2001) A non-ischemic forearm exercise test for the screening of patients with exercise intolerance. Neurology 56:1733–1738
Vissing J, Haller RG (2003) A diagnostic cycle test for McArdle’s disease. Ann Neurol 54:539–542
Duboc D, Jehenson P, Tran Dinh S et al. (1987) Phosphorus NMR spectroscopy study of muscular enzyme deficiencies involving glycogenolysis and glycolysis. Neurology 37:663–671
Haller RG (2000) Treatment of McArdle disease. Arch Neurol 57:923–924
Andersen ST, Haller RG, Vissing J (2008) Effect of oral sucrose shortly before exercise on work capacity in McArdle disease. Arch Neurol 65:786–789
Vissing J, Haller RG (2003) The effect of oral sucrose on exercise tolerance in patients with McArdle’s disease. N Engl J Med 349:2503–2509
Andersen ST, Vissing J (2008) Carbohydrate- and protein-rich diets in McArdle disease: effects on exercise capacity. J Neurol Neurosurg Psychiatry 79:1359–1363
van der Ploeg AT, Reuser AJ (2008) Pompe’s disease. Lancet 372:1342–1353
van den Hout HMP, Hop W, van Diggelen OP et al. (2003) The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics 112:332–340
Hagemans MLC, Winkel LPF, Van Doorn PA et al. (2005) Clinical manifestation and natural course of late-onset Pompe’s disease in 54 Dutch patients. Brain 128:671–677
Makos MM, McComb RD, Hart MN, Bennett DR (1987) Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship. Ann Neurol 22:629–633
Laforêt P, Petiot P, Nicolino M et al. (2008) Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology 70:2063–2066
Fukuda T, Ewan L, Bauer M et al. (2006) Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol 59:700–708
Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C (2004) Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin Chim Acta 347:97–102
Laforêt P, Nicolino M, Eymard PB et al. (2000) Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 55:1122–1128
Kishnani PS, Corzo D, Nicolino M et al. (2007) Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 68:99–109
Case LE, Bjartmar C, Morgan C et al. (2015) Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease. Neuromuscul Disord 25:321–332
Broomfield A, Fletcher J, Davison J et al. (2016) Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy. J Inherit Metab Dis 39:261–271
Hahn A, Praetorius S, Karabul N et al. (2015) Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. JIMD Rep 20:65–75
Chien Y-H, Lee N-C, Chen C-A et al. (2015) Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth. J Pediatr 166:985–991.e1–2
Banugaria SG, Prater SN, Ng Y-K et al. (2011) The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med 13:729–736
van der Ploeg AT, Clemens PR, Corzo D et al. (2010) A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med 362:1396–1406
Anderson LJ, Henley W, Wyatt KM et al. (2014) Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study. J Inherit Metab Dis 37:945–952
Schorderet DF, Cottet S, Lobrinus JA et al. (2007) Retinopathy in Danon disease. Arch Ophthalmol (Chicago, Ill 1960) 125:231–236
Danon MJ, Oh SJ, DiMauro S et al. (1981) Lysosomal glycogen storage disease with normal acid maltase. Neurology 31:51–57
Nishino I, Fu J, Tanji K et al. (2000) Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 406:906–910
Dworzak F, Casazza F, Mora M et al. (1994) Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant. Neuromuscul Disord 4:243–247
Moslemi A-R, Lindberg C, Nilsson J et al. (2010) Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. N Engl J Med 362:1203–1210
Kollberg G, Tulinius M, Gilljam T et al. (2007) Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. N Engl J Med 357:1507–1514
Nilsson J, Schoser B, Laforet P et al. (2013) Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol 74:914–919
Malfatti E, Nilsson J, Hedberg-Oldfors C et al. (2014) A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol 76:891–898
Boisson B, Laplantine E, Prando C et al. (2012) Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol 13:1178–1186
Laforêt P, Richard P, Said MA et al. (2006) A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis. Neuromuscul Disord 16:178–182
Gollob MH, Green MS, Tang AS et al. (2001) Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med 344:1823–1831
Cheung PC, Salt IP, Davies SP, Hardie DG, Carling D (2000) Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding. Biochem J 346:659–669
Benarroch EE (2010) Glycogen metabolism: metabolic coupling between astrocytes and neurons. Neurology 74:919–923
Vilchez D, Ros S, Cifuentes D et al. (2007) Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. Nat Neurosci 10:1407–1413
Turnbull J, Girard J-M, Lohi H et al. (2012) Early-onset Lafora body disease. Brain 135:2684–2698
Paradas C, Akman HO, Ionete C et al. (2014) Branching enzyme deficiency: expanding the clinical spectrum. JAMA Neurol 71:41–47
Robitaille Y, Carpenter S, Karpati G, DiMauro SD (1980) A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora’s dise. Brain 103:315–336
Cafferty MS, Lovelace RE, Hays AP et al. (1991) Polyglucosan body disease. Muscle Nerve 14:102–107
Savage G, Ray F, Halmagyi M, Blazely A, Harper C (2007) Stable neuropsychological deficits in adult polyglucosan body disease. J Clin Neurosci 14:473–477
Mochel F, Schiffmann R, Steenweg ME et al. (2012) Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol 72:433–441
Author information
Authors and Affiliations
Corresponding authors
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2016 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Walter, J., Labrune, P.A., Laforet, P. (2016). The Glycogen Storage Diseases and Related Disorders. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_5
Download citation
DOI: https://doi.org/10.1007/978-3-662-49771-5_5
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-49769-2
Online ISBN: 978-3-662-49771-5
eBook Packages: MedicineMedicine (R0)