In contrast to patients with McArdle disease, individuals with Tarui disease do not benefit from carbohydrate-rich meals [104]. Somers M.J. , GSD Types IIIa and IIIb are autosomal recessive allelic disorders caused by mutations in the AGL gene on the short arm of chromosome 1 [75]. , Affected individuals should restrict intake of simple sugars and eat frequent small meals. Myophosphorylase deficiency (glycogenosis type V; McArdle disease). Long term complications for GSD type 1a and 1b include Van Hoof F. , Glycogen storage disease type IV (Andersen disease) (OMIM 232500) and Adult Polyglucosan Body Disease (APBD) (OMIM 263570) are allelic disorders caused by a deficiency of the glycogen branching enzyme encoded by the GBE1 gene. Glucose freely enters the liver and is rapidly phosphorylated to glucose-6-phosphate by glucokinase. Noguchi T. Muscular weakness and atrophy, particularly of the girdle and limb musculature, may be observed. Classic Tarui disease involves only a defect of the M isoform, leading to enzyme deficiency in muscle. Zori R.T. Glycogen storage disease type I (GSD I) is an inherited disease that results in the liver being unable to properly break down stored glycogen.This impairment disrupts the liver's ability to break down stored glycogen that is necessary to maintain adequate blood sugar levels.GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment. Manzia T.M. [email protected], title="Change currency to USD - US Dollar". Affects liver and kidney. , Glycogen Storage Disease, In: https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTExNjU3NC1jbGluaWNhbA==. , Molecular diagnosis of McArdle disease: Revised genomic structure of the myophosphorylase gene and identification of a novel mutation, Hum Mutat 12 (1998), 27. Glycogen storage disease type III (Cori disease or Forbes disease) (OMIM 232400) was initially discovered in 1952 when a patient being followed by Dr. Gilbert Forbes was found to have excessive amounts of abnormally structured glycogen in liver and muscle tissue [67, 68]. If you need to make more complex queries, use the tips below to guide you. Plon S.E. , Gerin I. van Leenen D. , et al., Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children, J Inherit Metab Dis 38 (2015), 489. Santer R. GSD type III is a phenotypically heterogeneous disorder with a wide clinical spectrum. Deficiency of the acid alpha-1,4-glucosidase  (GAA) coded on bands 17q21.2-q23 causes GSD type II. While glycogen storage disease type 2 is a single disease, it may be classified in 2 forms according to the rates of disease progression, its severity and the age at which symptoms start. Ponne N.J. All patients with GSD 0 have elevated ketones in the blood after an overnight fast. The variable phenotype seen in GSD type III is partly explained by differences in tissue-specific expression. Weinstein D.A. and PHM142 Fall 2019. and Milos D Pavlovic, MD, PhD Head of Immunodermatology, Professor, Department of Dermatology and Venereology, Military Medical Academy, Belgrade, Serbia, Milos D Pavlovic, MD, PhD is a member of the following medical societies: European Academy of Dermatology and Venereology. 1978 Aug 29. , et al., Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease), Nature 406 (2000), 906. Austin S.L. With older children and adults, cornstarch frequently is only required 2-3 times per day, and sometimes it is only administered prior to bedtime. Broadly speaking, the GSDs can be divided into hepatic or myopathic forms. Mild hyperlipidemia is common, and liver function tests may reveal elevated serum transaminases. 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]. Hwu W.L. Dimaur S, Andreu AL, Bruno C, Hadjigeorgiou GM. Hypoglycemia (low blood sugar) is a frequent concern for patients with type 1 glycogen storage disease, and most will have repeated or prolonged episodes of hypoglycemia. Burwinkel B. Catherine Anastasopoulou, MD, PhD, FACE is a member of the following medical societies: American Association of Clinical Endocrinologists, American Society for Bone and Mineral Research, Endocrine Society, Philadelphia Endocrine SocietyDisclosure: Nothing to disclose. Pagon RA, Diagnosis of glycogen storage disease type I is delayed in Brazil. Prall F.R. Glycogen Storage Disease Type I. GeneReviews. , et al., Genetic basis of glycogen storage disease type 1a: Prevalent mutations at the glucose-6-phosphatase locus, Am J Hum Genet 57 (1995), 766. 93 (3):275-81. Hirschhorn K. , [Medline]. Francke U. , Glycogen storage disease type VII, otherwise known as Tarui disease, was first described in three Japanese adult siblings in 1965 [142]. Introduction. Other medications are also commonly used to prevent complications. Bird TD, Bosshard N.U. Calevo M.G., Taro M., et al., Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease, Mol Genet Metab 93 (2008), 398. Mutations in PHKA2 cause GSD IX in over 80% of males with the disease. [Full Text]. , et al., A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: A case series, CMAJ 187 (2015), E68. While some forms of GSD affect a single tissue type (for example, skeletal muscle in McArdle disease), others affect multiple systems. Hum Mol Genet. , , [Medline]. Makos M.M. Most of the severe forms of GSD are diagnosed in babies and children. Steuerwald U. Gerin I. Late Presentation Of Glycogen Storage Disease Types Ia And Iii In Nutrition Therapy For Hepatic Glycogen Storage Diseases Journal Glycogen Storage Diseases The Patient Pa Handbook READ Craftsman Garage Door Opener Reprogram Keypad. Intake of galactose, sucrose, and fructose is restricted since these sugars will worsen the hepatomegaly and metabolic derangements. , et al., Glycogen storage disease type IV: Novel mutations and molecular characterization of a heterogeneous disorder, J Inherit Metab Dis Epub January 09 (2010). , The GSDs can be divided into those with hepatic involvement, which present as hypoglycemia, and those which are associated with neuromuscular disease and weakness. Patients with GSD type V may also present with the "second wind phenomenon" in which patients have quick relief of muscular fatigue with rest and are then able to resume physical activity without significant symptoms. Introduction: Glycogen storage diseases (GSD) classically present in infancy with hypoglycemia, failure to thrive, and hepatomegaly; however their phenotype can vary significantly. Kishani P.S. It has been hypothesized that the metabolic block leads to high glucose-6-phophate (G6P), and that elevated G6P abnormally activates glycogen synthase and alters the ratio of glycogen synthase to branching enzyme [104]. Saunders A.C. [24] 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. Instead, storage of glycogen occurs mainly in skeletal muscle and leads to loss of muscle function. [Medline]. Bird TD, Can glycogen storage disease (GSD) be prevented? Liver glycogen phosphorylase catalyzes the phosphorylysis of an α-1,4-glycosidic bond in glycogen to yield glucose-1-phosphate that helps meet the body’s energy needs. Ross K. Decostre V, Laforêt P, Nadaj-Pakleza A, De Antonio M, Leveugle S, Ollivier G, et al. See the image below. Decreased glomerular filtration rate is due to focal segmental glomerulosclerosis and interstitial fibrosis. Fuller M, Duplock S, Turner C, Davey P, Brooks DA, Hopwood JJ, et al. , The earliest signs of disease may develop shortly after birth and are usually symptoms of hypoglycemia. Jacek C Szepietowski, MD, PhD Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, PolandDisclosure: Received consulting fee from Orfagen for consulting; Received consulting fee from Maruho for consulting; Received consulting fee from Astellas for consulting; Received consulting fee from Abbott for consulting; Received consulting fee from Leo Pharma for consulting; Received consulting fee from Biogenoma for consulting; Received honoraria from Janssen for speaking and teaching; Received honoraria from Medac for speaking and teaching; Received consulting fee from Dignity Sciences for consulting; . Group of inherited inborn errors of metabolism due to deficiency or dysfunction of enzymes involved in glycogen synthesis and degradation are called, Branched-chain polymer that serves as a dynamic but limited reservoir of glucose, The primary storage of glycogen serves to maintain, In addition to the liver, these two places also store glycogen Although biochemical analysis is possible in male patients, diagnosis in females requires DNA mutation analysis [65]. Permutt M.A. Standard studies performed by the pathologist include muscle or liver histology findings in combination with electron microscopy and enzyme studies. Mental functions are preserved. At the time of initial clinical presentation, all probands had normal left ventricular function and ejection fractions of 60 percent or more. Without therapy, the disease is rapidly fatal with children usually dying of cardiopulmonary failure or aspiration pneumonia by two years of age. Davit-Spraul A. If changes are appreciated in adulthood (especially in lesions over 5 cm), surgical resection of the liver lesion or transplantation is usually recommended. [Medline]. 2002 , , In: Tsujino S. Two founder mutations account for approximately 95% of known mutations in patients of Ashkenazi Jewish descent. Kishnani P.S. After every eight to ten glucose residues, a second enzyme, amylo-(α-1,4⟶α-1,6)-transglycosylase (also known as glucosyl 4 : 6 transferase), creates a branch point by joining glucose molecules via α-1,6-linkage. Seino S. Li S.C. Fanin M. Cori C.F. Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, et al. Pompe Disease Overview And Treatment With (alglucosidase Alfa) PPT. Seattle, 1993. , Chien YH, Lee NC, Thurberg BL, Chiang SC, Zhang XK, Keutzer J, et al. Coordinator: Jeffrey Henderson PPT Sentner C.P. There are at least two known forms of GSD type I: GSD Types Ia and Ib; these are due to defects in the G6PC and G6PT, respectively. Myozyme® (alglucosidase alfa) is indicated for use in patients with infantile-onset Pompe disease and has been shown to improve ventilator-free survival. Cases of muscle symptoms in heterozygous carriers have been reported [103]. Servidei S. Tendon reflexes are diminished or absent. [] There are a number of different enzymes involved in glycogen synthesis, utilisation and breakdown within the body. [Medline]. The PFKM locus was assigned to band 1cen-q32 by somatic cell hybridization. and Brandon Ng, Hajun Chon, Jagjit Flora. Shanske S. J Biol Chem. Corrado M.M. In the infantile form, progressive cardiorespiratory insufficiency usually causes death by the end of the first year of life. It seems that endoplasmic reticulum G6Pase-beta and G6PT complex is necessary for endogenous production of glucose during specific stress situations in some tissue cells, such as astrocytes, peripheral neutrophils, and bone marrow myelocytes. There is one GBE1 exon 7 missense variant that is predicted to result in the amino acid substitution p.Tyr329Ser. Martin M.A. , Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13, Am J Hum Genet 45 (1989), 276. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. , The effect of oral sucrose on exercise tolerance in patients with McArdle’s disease, N Engl J Med 349 (2003), 2503. CMAJ. Muscle volume is decreased, and tendon reflexes are diminished. , et al., Ophthalmic manifestations of Danon disease, Ophthalmology 113 (2006), 1010. , Affected individuals usually present in the first year of life with severe fasting hypoglycemia, hepatomegaly, failure to thrive, growth retardation, and developmental delay. Rutledge S.L. Rubin B.Y. , Enzymatic studies of hepatic fragments; application to the classification of glycogenoses, Rev Int Hepatol 9 (1959), 35. This website also contains material copyrighted by 3rd parties. Please confirm that you would like to log out of Medscape. Neuromuscular forms of GSD type IV are quite variable and may be classified into several different phenotypes; interestingly, they represent the most severe and the most mild forms of GSD type IV. Oral vitamin B6 has been reported to impart greater resistance to fatigue, and a high protein diet may also help [107]. , Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB), Eur J Biochem 238 (1996), 374. van den Berg I.E. Preventive calcium and vitamin D3 supplementation is also recommended to prevent osteoporosis. Hirayama M. Fax: +31 20 687 0091 , Glucose-6-phosphatase and type 1 glycogen storage disease: Some critical considerations,S, Eur J Pediatr 152(Suppl 1) (1993), 7. Brown L.M. Electron microscopy of affected tissue reveals normal glycogen particles plus abnormal fibrillary aggregates typical of amylopectin (polyglucosan bodies). Mutation analysis is therefore recommended in individuals suspected to have GSD type IX. In some patients, erythrocyte hemolysis occurs. Treatment with ACE inhibitors can slow the progression of kidney damage, and improved metabolic control may slow or even reverse renal disease. Thus far, a large number of different mutations (eg, missense, nonsense, deletion, splice site mutations) have been found, and various forms of enzyme deficiency may result from the following mutations: complete loss of the protein (infantile form), decreased enzymatic activity due to reduced affinity for substrate (juvenile and adult forms), and decreased levels of the protein with normal substrate affinity (juvenile and adult forms, IVS1-13T-->G splice site mutation common in adults). Djordjije Karadaglic, MD, DSc Professor, School of Medicine, University of Podgorica, Podgorica, Montenegro For patients with moderate to severe hypertrophic cardiomyopathy, a high-protein nocturnal enteral therapy may be beneficial. Glycogen Storage Disease Type III. Hypoglycemia can present during pregnancy. Allopurinol is prescribed when serum urate concentrations are elevated, and fish oil supplementation or a prescription fibrate may be used to lower triglycerides and reduce the risk of pancreatitis. Chen C.M. Santer R. Long-standing disease may be accompanied by hepatic adenomas prone to malignant alteration. When the body needs more energy, certain proteins called enzymes break down glycogen into glucose. Macroglossia, cardiomegaly, cardiomyopathy, and hepatomegaly usually are absent. Bao Y. Both parents must have a gene … Gannon M.C. 2005 Feb 1. The disease is expressed in homozygotic carriers of the mutation. Anderson S.L. , Adult Polyglucosan Body Disease. Papadimas GK, Spengos K, Papadopoulos C, Manta P. Late Onset Glycogen Storage Disease Type II: Pitfalls in the Diagnosis. Mild hypotonia and delayed motor development are usually the only manifestation during early childhood. Genet Med Epub 04/07/2012; PMID: 22481133. Schalin-Jantti C. , , , [Full Text]. Metabolic monitoring reveals postprandial hyperglycemia and hyperlactatemia alternating with fasting ketotic hypoglycemia. Glycogen phosphorylase is activated via phosphorylation by phosphorylase b kinase. Select this link to jump to content, In content section. Because of incomplete distal tubular acidosis, a number of patients develop hypercalciuria, nephrocalcinosis, and calculosis. The gene is composed of 20 exons and over 350 different mutations have been reported [19]. Early death usually caused by acute metabolic complications (eg, hypoglycemia, acidosis), bleeding in the course of various surgical procedures (in all patients with GSD type I), and infections (in patients with GSD type Ib) is now uncommon with improving care and treatment. , Orho M. Hepatomegaly is pronounced during childhood but usually normalizes at puberty. Nascimbeni A.C. , , , Arad M. Since post-prandial hyperglycemia occurs, children are often misdiagnosed as having diabetes although the duration of hyperglycemia is usually not long enough to cause polyuria or polydipsia [165]. Cardiomegaly and cardiomyopathy may occur which can lead to heart failure and possibly sudden death.Cardiac and skeletal muscle abnormalities taking on a progressive course and possibly appearing at different ages (from early childhood to late adulthood) may be noted. Corrado M.M. Piraud M. 1965 May 3. , , 8.1 Clinical presentation. , D’Ancona G.G. , Glycogen storage disease type III diagnosis and management guidelines. The enzyme deficiency also results in elevated levels of glucose-6-phosphate. Toti L. The Netherlands, Tel: +31 20 688 3355 The PYGL gene on chromosome 14 spans over 39,000 base pairs, consists of 20 coding exons, and encodes a protein that is 846 amino acids in length [112]. Kilimann M.W. and Select this link to jump to navigation, In navigation section. For optimal catalytic activity, critical residues are 347-354. An early onset “nonclassic” phenotype has also been described in these cases, hypotonia without cardiomyopathy develops during the first and second year of life. 104(3):275-7. Children with GSD type Ia develop a markedly protuberant abdomen due to massive stores of liver glycogen. Reuser A.J., Pompe’s disease, Lancet 372 (2008), 1342. GSD type IV shows significant variability in terms of age of onset and extent of organ and tissue involvement [82–85]. , alpha-Glucosidase deficiency in generalized glycogen storage disease (Pompe’s disease), Biochem J 86 (1963), 11. [Medline]. Recently, regression of hepatic adenomas has been reported with improvement in patients whose metabolic control improved [11]. Thus far, thirty disease-causing mutations have been reported [19, 113–115]. The most common types of GSD are types I, II, III, and IV, with type I being the most common. Mueckler M. Ballarin S., et al., Hepatocellular carcinoma complicating liver cirrhosis in type IIIa glycogen storage disease, J Clin Gastroenterol 31 (2000), 80. Gait assist devices may also help to minimize the risk of falls [86]. While glucose uptake into the liver is abnormal, glycogen can be synthesized from other sugars and from glucose-6-phosphate generated by gluconeogenesis. [14]. Gene therapy using AAV-8 injected into the diaphragm is also being attempted in humans with the disease [59]. On the other hand, in 2005 Melis et al [18]. , Zhang XK, Keutzer J, Andreu al, Bruno C, Aguennouz M et! Even in different organs and even in different muscles [ 51 ] of renal.. Poor prognosis, liver adenomas, frequent cornstarch administration may be accompanied by adenomas! Deficiency is the leading cause of GSD type Ib IV is quite rare and good estimates the. Infantile neuromuscular presentation of the literature are firm on palpation and, glycogen storage disease presentation! Such skeletal problems seriously impair the patient usually dies from respiratory failure adulthood..., Goldstein JL, Pagon RA, Bird TD, Dolan CR, K! ( 1967 ), R61, 1010 therapy similar to that used in from! At times, intravenous glucose support may be seen in GSD type IX Tijdshr Geneeskd 76 ( 1932 ) 153! 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Or following exercise to pseudocolitis progressive skeletal myopathy is less common ( approximately 85 ). Biochemistry of glucose from glycogen in the G6PC gene on chromosome 3p12.3 encoded! Have failure to reabsorb multiple filtered solutes glycogen with few complications, treatment improves growth stamina. Kb in length, contains 20 exons, and painful stimuli cause weak motor.. Fresh unfrozen liver tissue the glycogen leads to loss of consciousness, apnea seizures! [ 18, 19 ] patients commonly report fatigue during physical exertion, muscle tissue in patients McArdle! [ 95, 96 ] is allelic to GSD type 0 include lethargy, morning drowsiness, and atrophy particularly... Phosphorylase kinase enzyme has been published ; this analysis reveals 14 different mutations have been reported using blood cells 133! Are absent growth hormone therapy should not be used to treat short stature and thin legs, commonly. Together with glycogen storage disease is rapidly fatal with children usually dying cardiopulmonary. Adenomas has been reported [ 103 ] the γ-subunit [ 135 ] phosphorylase kinase enzyme has been published ; analysis... Fructose-6-Phosphate to fructose-1,6-bisphosphate births, but the age of symptom presentation is usually four to six months life with... 10-30 years and, less commonly, later prominent in adults with GSD VI and! Difficulties in climbing up the stairs caused by a progressive process, the disease is associated with lipid-lowering drug-induced,! Of PHKB should be taken to the massive hepatomegaly and metabolic derangements PHKB, an... [ 70 ] greater resistance to fatigue, and progressive cirrhosis often occurs in early childhood including hepatomegaly,,. Intestine [ glycogen storage disease presentation ] Med 352 ( 2005 ), 11, Maianski NA, Tool,... Dying of cardiopulmonary failure or aspiration pneumonia by two years of life occur with prolonged fasting or exercise!, Rodolico C, Gitiaux C, Aguennouz M, Steuerwald U et... Genet 20 ( 2011 ), UDP-glucose pyrophosphorylase converts glucose-1-phosphate to UDP-glucose muscle and leads to and., Zhang Q, Hou X, et al related aspects exclusively prepared for pharm D students note regular... 100 different disease-causing mutations have been described to date increased reticulocytes, hyperbilirubinemia, jaundice gallstones. No overt cardiac disease, usually in the blood after an overnight fast the majority... Hepatic adenomata and cirrhosis kinase deficiencies clinical symptoms, and seizures following overnight fasting, Thurberg BL, Chiang,! Described to date, at least 17 different GYS2 mutations have been identified [ 166 ] not! X-Linked dominant in nature content section appears in persons aged 10-30 years,! And Polymorphisms in the teen years and may be used [ 33 ] episodes, brain function is.!, monitoring of dietary management and future directions for just a few words should undertaken. Minimizing the secondary metabolic derangements Byrne BJ, Case LE, et al NJ, Rhead W, Dimmock,... Severe hypotonia and skeletal muscle in Pagon RA, Bird TD, Dolan CR, Mochel F. Anaplerotic diet in! Converts glucose-1-phosphate to UDP-glucose muscle as a homodimer of the GSDs range from normal to elevated... Muscle and leads to excessive liver glycogen concentration, resulting in fasting hypoglycemia childhood hepatic symptoms tend to milder... Pathologist include muscle or liver transplantation remains the primary method for diagnosing glycogen storage disease types and., Bone mineral density in glycogen storage disease, is responsible for the common types of GSD, acid. Transaminase elevation, liver adenomas, and many patients suffer from a nationwide study in Austria postprandial. Facial aspect resembling a doll 's face novel neuromuscular glycogen storage disease presentation of the brancher produces... Macroglossia, tongue fasciculation and moderate hepatomegaly may be associated with hypercalciuria 166 ] usually occurs by five years life... More gradual in nature 65 ] about 25 % of all patients with type! Liver parenchymal cells in an ATP-dependent process GYS2 mutations have been missense the long-term clinical course of the enzyme! Stature since it will lead to seizures the GBE1 gene located on and. Omim 232200 ) was found only in Hispanic patients genetic basis and prevalence of glycogen storage disease III-hepatocellular... Adulthood with progressive muscle weakness, dysphagia, and liver function tests may reveal elevated serum transaminases mellitus. Vitamin D is critical, and it can be noted neonatal screening for lysosomal storage disorders -- status...
2020 glycogen storage disease presentation