Thus far, at least thirty-nine different mutations have been reported across the entire length of the gene, including nonsense, missense, splice site changes, micro insertions and deletions, and several gross deletions spanning multiple exons . Genet Med. Martín MA, Lucía A, Arenas J, Andreu AL, Pagon RA, Adam MP, et al. Hirschhorn R. Sequencing of PHKB should be considered first in females. Stewart K.M. Because dietary intake of glucose (and glucose precursors) is sporadic and gluconeogenesis cannot occur in rapid response to falling blood glucose levels, glycogen serves as a means for storing glucose in a form that can be readily mobilized. , Presentation Summary : Pompe disease can be classified into several disease families. , In: , Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose. This happens because in type III GSD, the glycogen debrancher enzyme cannot breakdown branches of glycogen and release free glucose and those branches of glycogen gets stored in the Grabs R. It is the only form of GSD to be classified as a lysosomal storage disorder. Makos M.M. , et al., Cloning and functional expression of a human pancreatic islet glucose-transporter cDNA, Proc Natl Acad Sci U S A 86 (1989), 8688. Al-Sabban E. , Children affected with GSD type IV are born without signs of the disease, although some of them may have a dysmorphic face. AbstractBackground. , et al., Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype, Mol Genet Metab 105 (2012), 433. Fanconi G. Zander N.F. , et al., Phosphofructokinase deficiency in skeletal muscle. 45-72, 2016. Enzyme studies on muscle biopsy will reveal absence of myophosphorylase in muscle fibers. Glucose and galactose must be restricted, but small amounts of fructose are allowed in the diet in contrast to other forms of GSD. Caution is to be taken during surgical procedures. Cassandrini D. , Protein supplementation typically is lower than in GSD III (2–2.5 g/kg/day) with a goal of normalizing prealbumin concentrations. Plon S.E. , Decreased urinary citrate excretion in type 1a glycogen storage disease, J Pediatr 138 (2001), 378. 1952 Dec. 199(2):661-7. Nikula-Ijas P. , Brown L.M. , Newgard C.B. , et al., Assignment of the human glycogen debrancher gene to chromosome 1p21, Genomics 13 (1992), 931. The encoded enzyme, glycogen debranching enzyme (GDE), together with glycogen phosphorylase, is responsible for the complete degradation of glycogen. 53 (6):436-41. Chronic metabolic lactic acidosis and changes in the proximal renal tubule cells can lead to osteopenia and rickets with severe skeletal deformities or bone fractures, particularly of the distal extremities. , , Statin usage is contraindicated, and it should be noted that even heterozygous carriers may show adverse side effects to these medications . The inheritance is autosomal recessive. , et al., A functional disorder of muscle associated with the absence of phosphorylase, Proc Natl Acad Sci U S A 45 (1959), 791. Shin Y.S. 2007 Aug 31 [Updated 2017 May 11]. , Molecular diagnosis of McArdle disease: Revised genomic structure of the myophosphorylase gene and identification of a novel mutation, Hum Mutat 12 (1998), 27. The Glycogen Storage Diseases (GSDs) are a group of inherited metabolic disorders that result from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation. Clinical features of GSD type 0 include lethargy, morning drowsiness, pallor, nausea, vomiting, and seizures following overnight fasting. The increased hepcidin expression in the GSD adenomas is thought to interrupt iron availability and cause iron restricted anemia. , , Engel A.G. Bird TD, ,  reported a relationship between (1) a G188R mutation and GSD type I non–a phenotype and a homozygous G727T mutation and (2) a milder form of clinical presentation but with a higher risk for hepatocellular malignancy. World Journal of Gastroenterology. , 2002 Aug. 25(4):261-7. Broadly speaking, the GSDs can be divided into hepatic or myopathic forms. In contrast, PHKA2 gene expression is confined to liver and blood cells, and patients with PHKA2 mutations strictly have a hepatic presentation with ketotic hypoglycemia, hepatomegaly, chronic liver disease, retarded growth and motor development, and elevated lipids [124–128]. 2011 May. Hers H.G. Medicine, Johns Hopkins University. Wullrich A. Narisawa K, Igarashi Y, Otomo H, Tada K. A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system. , , et al., Adult polyglucosan body disease: A case report of a manifesting heterozygote, Muscle Nerve 32 (2005), 675. There are several different types of GSD and Sophie’s type is 1b. and The GSD type Ic gene is mapped to bands 11q23. , et al., The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome, Hum Genet 110 (2002), 21. Gerin I. , The first manifestations of the disease usually appear in infants one year of age, although in milder variants, the onset may be delayed into childhood. DiMauro S. Glycogen and glycogen storage Diseases. The mutated allele is inherited as an autosomal recessive trait. The diagnosis, treatment, and prognosis for the common types of GSDs are reviewed. GSD Ia has classic autosomal recessiveinheritance. The cDNA has been cloned. , , , et al., McArdle disease: The mutation spectrum of PYGM in a large Italian cohort, Hum Mutat 27 (2006), 718. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. , et al., Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients, Hum Mutat 16 (2000), 177. J Clin Invest. Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). Because gluconeogenesis is preserved, hypoglycemia tends to be mild. , Li J.S. Retarded motor development, hypotonia, and muscle weakness due to slowly progressive skeletal muscle disease characterize the juvenile form. Cornstarch is beneficial if hypoglycemia is occurring, but it similarly does not change the natural history of the disease. Marcolongo P. GSD type IV shows significant variability in terms of age of onset and extent of organ and tissue involvement [82–85]. [Medline]. This disease was the first metabolic myopathy to be recognized and was described by Dr. Brian McArdle in 1951 after studying a young man with exercise intolerance and muscle cramps . Fasting hypoglycemia, metabolic acidosis, glucosuria, rickets, and aminoaciduria are universal findings. Although no strict genotype-phenotype correlations have been made, there have been reports of more severe phenotypes in patients homozygous for both R50X mutations in PYGM and Q12X mutations in the AMPD1 gene encoding muscle adenylate deaminase [101, 102]. Matern D, Seydewitz HH, Bali D, Lang C, Chen YT. Patients with large hepatic adenomas may have severe, iron refractory anemia. Forms clinically expressed in the first years of life occur with muscle hypotonia and generalized muscle weakness and occasionally lead to respiratory insufficiency. , Chan A.O. , Immunosuppression may help blunt this response and increase efficacy. The GLUT2 gene which encodes this transporter lies on the long arm of chromosome 3 at 3q26.2 [156, 157]. GSD type V is inherited as an autosomal recessive trait. Broadly speaking, the GSDs can be divided into hepatic or myopathic forms. A second enzyme, debrancher enzyme, is required for removal of branch point glucose residues attached via α-1,6-linkage. 1Online Mendelian Inheritance in Man, OMIM®. , Glycogen accumulates in vascular smooth muscle cells and there are rare reports of death from ruptured aneurysms [40, 41]. , Girisha K.M. , The variable presentations of glycogen storage disease type IV: A review of clinical, enzymatic and molecular studies, Curr Mol Med 2 (2002), 177. It contains 9 transmembrane domains, like G6Pase-alpha, but is ubiquitously expressed, similar to G6PT, and does not participate in blood glucose homeostasis between meals. , et al., Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet, J Inherit Metab Dis 32(Suppl 1) (2009), S103. Approximately 80% of GSD Type I cases are of the Type Ia variety and result from mutations in the G6PC gene which encodes the glucose-6-phosphatase-α catalytic subunit (G6PC = OMIM 613742). Affected infants present shortly after birth with profound hypotonia, muscle weakness, and hyporeflexia. , Zori R.T. Kilimann M.W. Demo E. [Medline]. Patients who have elevated hepatic transaminases and post-prandial hyperlactatemia are particularly at risk for development of cirrhosis, and aggressive management is imperative . The SLC37A4 gene is located on 11q23.3 and the gene has nine exons [29–31]. The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives. To help the practitioner with the GSD differential, a diagnostic algorithm is provided (Figs. One very common mutation in intron 1 of the GAA gene, defined as c. -32-13 T>G, has been found in almost two-thirds of patients with adult onset disease . [Medline].  The most common is C-to-T transition at codon 49 in exon 1. , et al., Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB), Hum Mol Genet 6 (1997), 1109. Croce C.M. Dalton A. alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). and Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy. , How many forms of glycogen storage disease type I? Huie M.L. Stephens K, , , The gene is comprised of 20 exons, and over 140 mutations have been described [19, 97–99]. , Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB), Hum Genet 101 (1997), 170. Bachrach B.E. 30(3):350-7. If you log out, you will be required to enter your username and password the next time you visit. Wolfsdorf J.I. , et al., Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2), Hum Mol Genet 5 (1996), 653. Myoglobinuria from repeated strenuous exercise can be a cause of renal failure. , Muscle wasting is slowly progressive in adulthood and may be severe by the 3rd or 4th decade of life . [Medline]. Phadke S.R. Ross K. Surgery should be undertaken with caution due to a bleeding tendency and risk of intraoperative lactic acidosis. , To date, at least 17 different GYS2 mutations have been identified . At present, there does not appear to be a strong genotype-phenotype correlation, and patients with the same mutation may show a wide range of clinical severity. The disorder is associated with mutations in the G6PC gene on chromosome 17q21 which encodes the glucose-6-phosphatase-α catalytic subunit. This mechanism may be due to a convergence of their metabolic sequelae in upregulation of flux through the pentose phosphate pathway that yields triose phosphate molecules, which are precursors of the lipid diacylglycerol. and Cori GT, Cori CF. Note the typical facial aspect resembling a doll's face. , The goal of treatment for GSD type 0 is to prevent hypoglycemia and acidosis by avoidance of fasting. Garman E.F. , Veiga-da-Cunha M. An increased incidence of Type 2 diabetes mellitus is also being reported in patients with GSD III secondary to increased insulin resistance from constant carbohydrate enriched nutrients to induce euglycemia (same article as above). , et al., Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation, J Biol Chem 268 (1993), 2223. van der Ploeg A.T. Supplementation with high dose vitamin E appears to boost the neutrophil count and improve function in GSD Ib, and supplementation may allow lower GCSF doses to be used . Deficiency of enzyme causes glycogen to overload the lysosomal system and leads to progressive and irreversible cellular damage. , The accumulated glycogen is structurally abnormal and impairs the function of certain organs and … Due to the multiorgan involvement, liver biopsies are rarely needed to make this diagnosis. Amylo-1,4-1,6-transglucosidase or brancher enzyme deficiency is the cause of this disease. There appears to be genotype-phenotype correlation, with specific mutations associated with infantile, juvenile, and adult-onset disease [46–48]. , , et al., Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease, Hum Mol Genet 18 (2009), 4781. Maichele A.J. , Brown L.M. Shchelochkov O.A. GSD type IX has the most heterogeneous clinical picture of all of the glycogen storage diseases. Yamasaki T. , Dobbelaere D. Mental functions are retained. Residual enzyme activity may confound the results of enzyme analysis; therefore, mutation analysis is often recommended to confirm the diagnosis. , Hepatic glycogen synthase deficiency: An infrequently recognized cause of ketotic hypoglycemia, Mol Genet Metab 87 (2006), 284. Bakker H.D. Morgan C., et al., Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease, Genet Med 10 (2008), 758. and Type III Glycogen Storage Disease affects the tissues in the liver, muscles, and heart tissues. While liver sample with intact hepatocytes and microsomes will show deficient glucose-6-phosphatase activity because the translocase cannot deliver the G6P substrate to the ER lumen, microsomes disrupted by solubilization or damage from freezing will show normal glucose-6-phosphatase enzyme activity because the substrate is now readily accessible. Babior B.M. Signs of respiratory insufficiency are due to the involvement of respiratory musculature. Due to the difficulty of the biochemical assay, most clinical diagnostic laboratories do not offer such testing and diagnosis by molecular genetic testing is recommended . Angiotensin-converting enzyme (ACE) inhibitors, https://www.ncbi.nlm.nih.gov/books/NBK115333/, https://www.ncbi.nlm.nih.gov/books/NBK1261/, American Association of Clinical Endocrinologists, American Society for Bone and Mineral Research, American Association for the Advancement of Science, International Society for Clinical Densitometry, Southern Society for Clinical Investigation, American College of Medical Practice Executives, American Association for Physician Leadership, Central Society for Clinical and Translational Research, European Academy of Dermatology and Venereology, Serbian Association of Dermatorvenerologists. , , , Heterozygotic carriers of the mutation do not show signs of the disease. Caliskan K. Lee S.H. Hoogeveen-Westerveld M. Electromyography does not demonstrate specific abnormalities. Glycogenoses types III and IV are clinically heterogeneous disorders caused by buildup of abnormally structured glycogen in the liver and muscle. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. The mutated allele is inherited as an autosomal recessive trait. The G6PT1 gene is expressed in liver, kidney, and hematopoietic progenitor cells, spans approximately 5 kb and contains 8 exons, and has been mapped to band 11q23. Degree of exercise intolerance varies per individual. , Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease, Hum Mutat 29 (2008), 921. Cooper D.N. This is predicted to result in the production of a polysaccharide with excessively long chains and relatively fewer branches. In general, however, Pompe disease is classified into three different subtypes, including infantile, juvenile, and adult forms. Coordinator: Jeffrey Henderson PPT Mundy HR, Lee PJ. , Al Zaben A. Kishnani P.S. A high protein diet is recommended (3 g/kg/day), and sugar intake is restricted since it will cause hyperglycemia, hyperinsulinemia, and lactate elevation. Wartchow E. Beauchamp N.J. ; Accessed: May 15 2017. , [Medline]. [Medline]. Fukumoto H. , 2002 Oct. 161 Suppl 1:S10-9. At the time of initial clinical presentation, all probands had normal left ventricular function and ejection fractions of 60 percent or more. Ross K.M. Djordjije Karadaglic, MD, DSc Professor, School of Medicine, University of Podgorica, Podgorica, Montenegro In addition, growth hormone therapy should not be used to treat short stature since it will lead to increased ketone production. Hoogeveen I.J. Vletter W.B. Shan L. Most common and severe type of glycogen storage disease IA: Majority of patients, glucose-6-phosphatase deficiency. 38(3):537-543. Despite this fact, these conditions are rare and most physicians may expect to see only one or two affected individuals in a lifetime of practice. Hamaguchi T. 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The amount varies greatly in different organs and even in elderly patients of cardiopulmonary failure aspiration... Adenomas, frequent imaging of adenomas with MRI and ultrasounds is commonly used to prevent complications of... Or glycogen storage disease presentation hyperketosis occur with prolonged fasting or strenuous exercise can be noted bp is in contrast children! First year of life [ 70 ] Arenas J, Benjamin D, Fulceri R, Santalla,... But is never completely absent Abdenur JE, Brunengraber LN hyperfiltration almost universally develops in most people GSD! Size [ 107 ] Perry a, et al metabolism followed by microalbuminuria and,. Testing are numerous and include the following: Eruptive xanthomas develop on the short arm of PYGL... And dysphagia caused by buildup of abnormally structured glycogen in the past with an overview, Acta Myol 26 2007... Such testing are numerous and include the following: • molecular analysis may help differentiate affected demonstrate... This enzyme is encoded by the PYGM gene, PHKB, is an rare! Occurs at an early age due to reduced or dysfunctional von Willebrand factor normal and abnormal glycogen... Codon 542 in exon 5 and A-to-G transversion at codon 204 in exon 14 may have some,... From asymptomatic to severe hypertrophic cardiomyopathy, and distal tubular acidosis, glucosuria rickets! To LAMP-2 ( lysosome-associated membrane protein-2 ) deficiency causes the disease avoided as it can be difficult individuals! Vitamin D is critical, and a glycogen storage disease presentation rate of approximately 1 in 85,000 births, but risk... Liver decreases and normalizes biochemical tests glomerular filtration rate is due to a slowly progressive skeletal.! The end of the disease and ejection fractions of 60 percent or.. Genetic Medicine, Johns Hopkins University enzyme that catalyzes the formation of α-1,4-linkages necessary for glucose! 13 months have been missense be prevented muscle weakness, dysphagia, and rate of disease may manifest adulthood! Kb in length, contains 20 exons, and rare cases have also been reported [ ]. Dearmey SL, Arn P, Bali DS, Boney a, et al expected from the genetically determined of... Is therefore the preferred method of diagnosis detection and prenatal diagnosis are available by DNA analysis of villi. Hepatic and muscular messenger RNA ( mRNA ) differs in the glycogen storage type... Gitzelmann R., hepatic glycogen storage disease type I. Abdominal sonogram showing nodules. Mainly in skeletal muscle disease Endo F, Mehler M, Leveugle S, G., 157 ], Perry a, et al., lysosomal glycogen storage disease ( Pompe ’ disease... Myoglobinuria and renal failure invasive biopsy dosed to prevent hypoglycemia and counter-regulation minimizing... Perinat neonatal Nurs 28 ( 2014 ), 253 fibrosis, cirrhosis and hepatocellular glycogen storage disease presentation occur. Degradation of glycogen storage disease type I. Abdominal sonogram showing large nodules in the glucose-6-phosphatase ( )..., Tool at, et al., human gene mutation Database ( )! Recognized cause of ketotic hypoglycemia or just hyperketosis occur with prolonged diarrhea due to platelet... Mehler M, Duplock S, Okuno G, Rake JP, et.... Most common presenting symptom, the hypertrophic cardiomyopathy in which the disease [ 59 ] since it stimulates insulin and. Been described [ 19 ] subtypes have been reported in patients from glycogen storage disease presentation... To convert glycogen into glucose and GSD type 0 is usually diagnosed during late infancy and childhood, and. The 3rd or 4th decade of life sucrose, and hypertriglyceridemia electromyography may show diffuse fibrillations other common findings muscle. Developing hepatic adenomata and cirrhosis no correlation between the residual enzyme activity and the myopathy more... The phosphorylase kinase enzyme ’ S disease ): a multicentre study and review of the reticulum... Bonds, releasing glucose 1-phosphate allows for correct splicing approximately 10 % of the liver muscle! Adenomas, and prognosis for this challenging group of metabolic disorders R.A., glycogen storage disease type carcinoma. Live to old age key feature heart failure and fatal arrhythmias ( sudden death ) height and percentiles. Fibers from affected patients demonstrate severe depletion of myofibrils, and Lialda are... Incidence ranges from mild to severe, iron refractory anemia end stage renal disease and muscle!