GSD
MCID: GLY013
MIFTS: 59

Glycogen Storage Disease (GSD)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Glycogen Storage Disease

MalaCards integrated aliases for Glycogen Storage Disease:

Name: Glycogen Storage Disease 12 75 54 59 37 29 55 6 44 15 38 72 33
Glycogenosis 12 75 59
Storage Disease, Glycogen 40
Glycogenoses 12
Gsd 59

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:2747
KEGG 37 H00069
ICD9CM 35 271.0
MeSH 44 D006008
NCIt 50 C61272
SNOMED-CT 68 29633007
ICD10 33 E74.0 E74.00
MESH via Orphanet 45 D006008
ICD10 via Orphanet 34 E74.0
UMLS via Orphanet 73 C0017919
Orphanet 59 ORPHA79201
UMLS 72 C0017919

Summaries for Glycogen Storage Disease

NINDS : 54 Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles.  It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).  Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy.  The enzyme performs its function in intracellular compartments called lysosomes.  Lysosomes are known to function as cellular clearinghouses; they ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles. In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme.  Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.  Researchers have identified up to 300 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity.  The severity of the disease and the age of onset are related to the degree of enzyme deficiency.  Early onset (or  the infantile form) is the result of complete or near complete deficiency of GAA.  Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections.  The heart is grossly enlarged. Many infants with Pompe disease also have enlarged tongues.  Most babies die from cardiac or respiratory complications before their first birthday.  Late onset (or juvenile/adult) Pompe disease is the result of a partial deficiency of GAA.  The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood.  The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years.  The heart is usually not involved.  A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample.  Once Pompe disease is diagnosed, testing of all family members and a consultation with a professional geneticist are recommended.  Carriers are most reliably identified via genetic mutation analysis.

MalaCards based summary : Glycogen Storage Disease, also known as glycogenosis, is related to glycogen storage disease vi and glycogen storage disease iv. An important gene associated with Glycogen Storage Disease is GAA (Glucosidase Alpha, Acid), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Starch and sucrose metabolism. The drugs leucovorin and Bortezomib have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and skeletal muscle, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A glycogen metabolism disorder that has material basis in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

KEGG : 37
Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused by a defect in an enzyme gene or a transporter gene involved in glycogen metabolism; types I, VII, and XI for processing of glucose, types II-VI and IX for processing of glycogen, and type 0 for glycogen synthesis. Pompe disease (type II) is a lysosomal storage disease.

Wikipedia : 75 A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by... more...

Related Diseases for Glycogen Storage Disease

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Ii
Glycogen Storage Disease Iii Glycogen Storage Disease Iv
Glycogen Storage Disease V Glycogen Storage Disease Vi
Glycogen Storage Disease Vii Glycogen Storage Disease X
Glycogen Storage Disease Ixb Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc Glycogen Storage Disease Xv
Glycogen Storage Disease Ix Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 505)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease vi 35.5 PYGM PYGL G6PC
2 glycogen storage disease iv 35.5 GBE1 GAA G6PC AGL
3 glycogen storage disease iii 35.4 PYGL GAA G6PC AGL
4 glycogen storage disease ia 35.4 SLC37A4 PYGL PHKA2 G6PC
5 glycogen storage disease vii 35.4 PYGM PFKM GBE1
6 glycogen storage disease v 35.3 PYGM PYGL PFKM GAA
7 glycogen storage disease x 35.2 PHKA2 PGAM2
8 glycogen storage disease due to glucose-6-phosphatase deficiency 35.2 SLC37A4 G6PC
9 glycogen storage disease ii 35.1 PYGM PRKAG2 LAMP2 GAA
10 glycogen storage disease due to liver phosphorylase kinase deficiency 34.8 PHKG2 PHKA2
11 glycogen storage disease type 0 34.7 GYS2 GYS1 GYG1 AGL
12 danon disease 34.6 PRKAG2 LAMP2 GAA
13 glycogen storage disease ix 34.5 PYGL PHKG2 PHKA2 PHKA1
14 phosphorylase kinase deficiency 33.6 PRKAG2 PHKG2 PHKB PHKA2 PHKA1
15 hypoglycemia 32.1 GYS2 G6PC AGL
16 fasting hypoglycemia 31.6 GYS2 GYS1
17 myoglobinuria 31.2 PYGM PGAM2 PFKM
18 atrial standstill 1 31.0 PRKAG2 LAMP2 GBE1 GAA AGL
19 phosphoglycerate kinase deficiency 30.8 PYGM PFKM
20 carbohydrate metabolic disorder 30.7 PYGM PHKA2 GBE1 GAA G6PC AGL
21 myoclonic epilepsy of lafora 30.4 GYS2 GYS1 GYG1 GBE1
22 glycogen storage disease 0, liver 13.0
23 glycogen storage disease ixb 13.0
24 glycogen storage disease ixc 13.0
25 glycogen storage disease 0, muscle 13.0
26 glycogen storage disease, type ixd 13.0
27 glycogen storage disease ixa1 13.0
28 glycogen storage disease xv 12.9
29 glycogen storage disease ic 12.9
30 glycogen storage disease xii 12.9
31 glycogen storage disease xiii 12.9
32 glycogen storage disease of heart, lethal congenital 12.9
33 glycogen storage disease viii 12.9
34 glycogen storage disease ib 12.9
35 glycogen storage disease ixa 12.9
36 fanconi-bickel syndrome 12.8
37 glycogen storage disease due to glycogen branching enzyme deficiency 12.7
38 glycogen storage disease due to glucose-6-phosphatase deficiency type ib 12.7
39 lysosomal glycogen storage disease 12.6
40 glycogen storage disease due to phosphorylase kinase deficiency 12.6
41 glycogen storage disease due to acid maltase deficiency, infantile onset 12.6
42 glycogen storage disease due to acid maltase deficiency, late-onset 12.6
43 glycogen storage disease with hypertrophic cardiomyopathy 12.5
44 glycogen storage disease due to glycogen synthase deficiency 12.5
45 obsolete: glycogen storage disease due to acid maltase deficiency, adult onset 12.4
46 obsolete: glycogen storage disease due to acid maltase deficiency, juvenile onset 12.4
47 glycogen storage disease due to lactate dehydrogenase deficiency 12.4
48 pulmonary interstitial glycogenosis 12.4
49 congenital disorder of glycosylation, type it 12.2
50 phosphoglycerate mutase deficiency 11.9

Graphical network of the top 20 diseases related to Glycogen Storage Disease:



Diseases related to Glycogen Storage Disease

Symptoms & Phenotypes for Glycogen Storage Disease

GenomeRNAi Phenotypes related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.6 PFKM PHKA2 PHKG2 PRKAG2
2 Decreased viability GR00221-A-2 10.6 PFKM PHKA1 PHKA2 PHKB PHKG2 PRKAG2
3 Decreased viability GR00221-A-3 10.6 PFKM PHKA1 PHKA2 PHKB
4 Decreased viability GR00221-A-4 10.6 PHKA2 PHKB
5 Decreased viability GR00342-S-1 10.6 PHKA2
6 Decreased viability GR00342-S-2 10.6 PHKA2
7 Decreased viability GR00342-S-3 10.6 PHKA2
8 Decreased viability GR00402-S-2 10.6 PFKM PHKA1 PHKA2 PHKB PHKG2 PRKAG2
9 no effect GR00402-S-1 10.26 AGL ALDOA ENO3 G6PC GAA GBE1
10 Increased transferrin (TF) endocytosis GR00363-A 9.9 G6PC GAA GYG1 GYS1 GYS2 PFKM
11 Apoptosis resistance GR00093-A-0 9.5 G6PC PFKM PHKA2
12 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.1 GAA PFKM PHKA1 PHKA2 PHKB PYGL

MGI Mouse Phenotypes related to Glycogen Storage Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 AGL G6PC GAA GBE1 GYS1 GYS2
2 homeostasis/metabolism MP:0005376 9.93 AGL G6PC GAA GBE1 GYS1 GYS2
3 liver/biliary system MP:0005370 9.56 AGL G6PC GBE1 GYS1 GYS2 LAMP2
4 muscle MP:0005369 9.32 AGL GAA GBE1 GYS1 GYS2 LAMP2

Drugs & Therapeutics for Glycogen Storage Disease

Drugs for Glycogen Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 99)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 4 58-05-9 143 6006
2
Bortezomib Approved, Investigational Phase 4 179324-69-7 93860 387447
3
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
4
rituximab Approved Phase 4 174722-31-7 10201696
5
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
6
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
7 Adrenergic Agonists Phase 4
8 Adrenergic beta-2 Receptor Agonists Phase 4
9 Tocolytic Agents Phase 4
10 Adrenergic beta-Agonists Phase 4
11 Respiratory System Agents Phase 4
12 Albuterol Phase 4
13 Adrenergic Agents Phase 4
14 Anti-Asthmatic Agents Phase 4
15 Bronchodilator Agents Phase 4
16 Folic Acid Antagonists Phase 4
17 Antineoplastic Agents, Immunological Phase 4
18 Folate Phase 4
19 Nucleic Acid Synthesis Inhibitors Phase 4
20 Vitamin B9 Phase 4
21 Rho(D) Immune Globulin Phase 4
22 Vitamin B Complex Phase 4
23 gamma-Globulins Phase 4
24 Immunoglobulins, Intravenous Phase 4
25 Dermatologic Agents Phase 4
26 Antimetabolites, Antineoplastic Phase 4
27 Antimetabolites Phase 4
28 Immunosuppressive Agents Phase 4
29 Immunologic Factors Phase 4
30 Antirheumatic Agents Phase 4
31 Alkylating Agents Phase 4
32 Antineoplastic Agents, Alkylating Phase 4
33
Ambrisentan Approved, Investigational Phase 3 177036-94-1 6918493
34
Miglustat Approved Phase 3 72599-27-0 51634
35
mometasone furoate Approved, Investigational, Vet_approved Phase 3 83919-23-7
36 Antihypertensive Agents Phase 3
37 Hypoglycemic Agents Phase 3
38 Antiviral Agents Phase 3
39 Anti-Infective Agents Phase 3
40 Cardiac Glycosides Phase 3
41 Glycoside Hydrolase Inhibitors Phase 3
42 Anti-HIV Agents Phase 3
43 Anti-Retroviral Agents Phase 3
44 Pharmaceutical Solutions Phase 3
45
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
46
Clenbuterol Approved, Investigational, Vet_approved Phase 1, Phase 2 37148-27-9 2783
47
Coal tar Approved Phase 2 8007-45-2
48
1-Deoxynojirimycin Investigational Phase 2 19130-96-2 1374
49 Tranquilizing Agents Phase 2
50 GABA Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 143)
# Name Status NCT ID Phase Drugs
1 Efficacy of Continuous Positive Airway Pressure of Treatment of Hypernasality of Children With Infantile Pompe Disease Unknown status NCT02405624 Phase 4
2 An Open-Label Extension Study of Patients With Late-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU02704 Completed NCT00455195 Phase 4
3 Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Completed NCT02405598 Phase 4 Salbutamol
4 A Phase 4 Prospective Exploratory Muscle Biopsy, Biomarker, and Imaging Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
5 An Exploratory, Open-Label Study of the Safety and Efficacy of High Dose or High Dosing Frequency Alglucosidase Alfa Treatment in Patients With Pompe Disease Who Do Not Have an Optimal Response to the Standard Dose Regimen Completed NCT00483379 Phase 4
6 An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme®-Naive, CRIM(-) Patients With Infantile-onset Pompe Disease Completed NCT00701129 Phase 4 Methotrexate;Rituximab
7 A Phase 3/4 Prospective Study to Characterize the Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
8 Immune Modulation Therapy for ERT-naïve or ERT-treated Pompe Disease Patients Recruiting NCT02525172 Phase 4 Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
9 A Single Arm, Prospective, Open-label, Multi-center Study to Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment Recruiting NCT03687333 Phase 4 ALGLUCOSIDASE ALFA (MYOZYME)
10 A Long-term Study to Evaluate Growth and Development Outcomes in Patients With Infantile-Onset Pompe Disease Who Are Receiving Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
11 An Exploratory Study of the Safety and Efficacy of Immune Tolerance Induction (ITI) in Patients With Pompe Disease Who Have Previously Received Myozyme Active, not recruiting NCT00701701 Phase 4
12 A Phase 3/4, Prospective, Multinational, Open-label, Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease Terminated NCT01597596 Phase 4
13 A Phase 4 Open Label, Prospective Study in Patients With Pompe Disease to Evaluate The Efficacy and Safety of Alglucosidase Alfa Produced at the 4000L Scale Terminated NCT01526785 Phase 4 Alglucosidase alfa
14 A Long-Term Continuation Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602 Completed NCT00125879 Phase 2, Phase 3
15 An Open-label, Multicenter, Multinational Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of Recombinant Human Acid Alpha-glucosidase Treatment in Patients Less Than 6 Months Old With Infantile-onset Pompe Disease Completed NCT00059280 Phase 2, Phase 3
16 Prospective, Open-label, Single-arm, Exploratory Study of the Effect and Safety of rhGAA in Patients With Advanced Late-onset Pompe Disease Who Are Receiving Respiratory Support Completed NCT00268944 Phase 3
17 ARIES-3: A Phase 3, Long-Term, Open-Label, Multicenter Safety and Efficacy Study of Ambrisentan in Subjects With Pulmonary Hypertension Completed NCT00380068 Phase 3 Ambrisentan
18 A Phase 3 Double-blind Randomized Study to Assess the Efficacy and Safety of Intravenous ATB200 Co-administered With Oral AT2221 in Adult Subjects With Late Onset Pompe Disease Compared With Alglucosidase Alfa/Placebo Recruiting NCT03729362 Phase 3 AT2221
19 An Open-label Study of the Pharmacokinetics, Safety, Efficacy, and Pharmacodynamics of ATB200/AT2221 in Pediatric Subjects Aged 12 to < 18 Years With Late-onset Pompe Disease Recruiting NCT03911505 Phase 3 AT2221
20 A Phase 3 Randomized, Multicenter, Multinational, Double-blinded Study Comparing the Efficacy and Safety of Repeated Biweekly Infusions of Avalglucosidase Alfa (neoGAA, GZ402666) and Alglucosidase Alfa in Treatment naïve Patients With Late-onset Pompe Disease Active, not recruiting NCT02782741 Phase 3 avalglucosidase alfa(GZ402666);alglucosidase alfa (GZ419829)
21 An Open-Label, Multicenter, Multinational Extension Study Of The Long-Term Safety And Pharmacokinetics Of Repeated Biweekly Infusions Of NeoGAA In Patients With Pompe Disease Enrolling by invitation NCT02032524 Phase 2, Phase 3 GZ402666
22 A Phase 3 Switchover Study of the Efficacy and Safety of BMN 701 (GILT-tagged Recombinant Human GAA) and Long-Term Study for Extended Treatment in rhGAA Exposed Subjects With Late-onset Pompe Disease Terminated NCT01924845 Phase 3 BMN 701
23 Study to Evaluate the Effectiveness of Dietary Treatment With Triheptanoin in Patients With Long-chain Fatty Acid Beta-oxidation Defects Withdrawn NCT02201368 Phase 3 Triheptanoin (SpezialölÒ 107®)
24 The Effect of Triheptanoin in Adults With Mc Ardle Disease (Glycogen Storage Disease Type V) Unknown status NCT02919631 Phase 2 Triheptanoin;Placebo oil
25 A Phase II Pilot Study to Explore Treatment With Sodium Valproate in Adults With McArdle Disease (Glycogen Storage Disorder Type V, GSDV) Completed NCT03112889 Phase 2 Sodium Valproate
26 A Treatment Trial of Triheptanoin in Patients With Adult Polyglucosan Body Disease - A Randomized Controlled Study Completed NCT00947960 Phase 2 Triheptanoin
27 An Open-Label Extension Study of the Long-Term Safety and Efficacy of Recombinant Human Acid α-Glucosidase (rhGAA) Given as Enyzme Replacement Therapy to a Single Patient With Pompe Disease (Glycogen Storage Disease Type II) Who Were Previously Enrolled in Genzyme-Sponsored Enzyme Replacement Therapy Studies Completed NCT00765414 Phase 2
28 A Multicenter, Open-Label Extension Study of the Long-Term Safety and Efficacy of Recombinant Human Acid α-Glucosidase (rhGAA) in Patients With Pompe Disease (Glycogen Storage Disease Type II) Who Were Previously Enrolled in Genzyme-Sponsored Enzyme Replacement Therapy Studies Completed NCT00763932 Phase 2
29 Single-center, Open-label Study of Safety, Pharmacokinetics and Efficacy of rhGAA in Patients With Late-Onset Pompe Disease Completed NCT00250939 Phase 2
30 An Open-Label, Multicenter, Multinational, Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of rhGAA Treatment in Patients Greater Than 6 Months and Less Than or Equal to 36 Months Old With Infantile-Onset GSD-II Completed NCT00053573 Phase 1, Phase 2
31 Open-Label, Pilot Study of the Safety, Pharmacokinetics and Pharmacodynamics of Recombinant Human Acid Alpha-Glucosidase (rhGAA) as Enzyme Replacement Therapy in Siblings With Glycogen Storage Disease Type II (GSD-II). Completed NCT00051935 Phase 2 Alglucosidase alfa
32 A Phase 1/2 Open-label Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamic and Preliminary Efficacy of BMN 701 (GILT-tagged Recombinant Human GAA) in Patients With Late-onset Pompe Disease Completed NCT01230801 Phase 1, Phase 2
33 An Open-Label, Multi-Center, International Study to Investigate Drug-Drug Interactions Between AT2220 and Alglucosidase Alfa in Patients With Pompe Disease Completed NCT01380743 Phase 2 duvoglustat;rhGAA
34 A Phase 1/2 Double-Blind Study of the Safety and Efficacy of Albuterol on Motor Function in Individuals With Late-onset Pompe Disease Receiving Enzyme Replacement Therapy Completed NCT01885936 Phase 1, Phase 2 Albuterol;Placebo
35 Phase I/II Trial of Diaphragm Delivery of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase (rAAV1-CMV-GAA) Gene Vector in Patients With Pompe Disease Completed NCT00976352 Phase 1, Phase 2 rAAV1-CMV-GAA (study agent) Administration
36 A Clinical Investigation of the Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy Completed NCT01942590 Phase 1, Phase 2 Clenbuterol;Placebo
37 A Phase 1/2, Open-Label Safety and Dose-Finding Study of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6- Phosphatase (G6Pase) in Adults With Glycogen Storage Disease Type Ia (GSDIa) Recruiting NCT03517085 Phase 1, Phase 2
38 Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over Study Recruiting NCT03642860 Phase 2 Triheptanoin;Placebo Oil
39 Study of ORL-1G (D-galactose) in Patients With Glycogen Storage Disease Type 14 Recruiting NCT03404856 Phase 1, Phase 2 ORL-1G - D-galactose
40 A Phase 1 Study of the Safety of AAV2/8-LSPhGAA in Late-onset Pompe Disease Recruiting NCT03533673 Phase 1, Phase 2
41 Dietary Treatment of Glucose Transporter Type 1 Deficiency (G1D) Recruiting NCT03181399 Phase 2 Triheptanoin
42 The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V) Active, not recruiting NCT02432768 Phase 2 Triheptanoin
43 An Open-label Ascending Dose Cohort Study to Assess the Safety, Pharmacokinetics, and Preliminary Efficacy of Avalglucosidase Alfa (NeoGAA, GZ402666) in Patients With Infantile-onset Pompe Disease Treated With Alglucosidase Alfa Who Demonstrate Clinical Decline or Sub-optimal Clinical Response Active, not recruiting NCT03019406 Phase 2 avalglucosidase alfa GZ402666;alglucosidase alfa GZ419829
44 A Three-Month, Open-Label, Randomized, Dose-escalation Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of VAL-1221 Versus Myozyme®/Lumizyme® in Patients With Late-Onset GSD-II (Pompe Disease) Followed by Open-Label Treatment With VAL-1221 in All Patients Active, not recruiting NCT02898753 Phase 1, Phase 2 VAL-1221;RhGAA
45 An Open-Label, Fixed-Sequence, Ascending-Dose, First-in-Human Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of Intravenous Infusions of ATB200 Co-Administered With Oral AT2221 in Adult Subjects With Pompe Disease Active, not recruiting NCT02675465 Phase 1, Phase 2 ATB200;AT2221
46 A Long-Term Study for Extended BMN 701 Treatment of Patients With Pompe Disease Who Have Participated in a BMN 701 Study Terminated NCT01435772 Phase 2
47 A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD) Terminated NCT02191917 Phase 2
48 An Open-Label, Multicenter Study to Evaluate the Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of Three Dosing Regimens of Oral AT2220 in Patients With Pompe Disease Terminated NCT00688597 Phase 2 Duvoglustat
49 High Protein Nutrition and Exercise Therapy (HPET) Plus Nocturnal Enteral Feeding (NEF) in Juvenile-onset Pompe Disease. Withdrawn NCT01656590 Phase 2
50 An Open-label, Multicenter, Multinational, Ascending Dose Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of Repeated Biweekly Infusions of neoGAA in naïve and Alglucosidase Alfa Treated Late-onset Pompe Disease Patients. Completed NCT01898364 Phase 1 GZ402666

Search NIH Clinical Center for Glycogen Storage Disease

Cochrane evidence based reviews: glycogen storage disease

Genetic Tests for Glycogen Storage Disease

Genetic tests related to Glycogen Storage Disease:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease 29

Anatomical Context for Glycogen Storage Disease

MalaCards organs/tissues related to Glycogen Storage Disease:

41
Liver, Skeletal Muscle, Testes, Heart, Lung, Neutrophil, Kidney
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Glycogen Storage Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Affected by disease, potential therapeutic candidate

Publications for Glycogen Storage Disease

Articles related to Glycogen Storage Disease:

(show top 50) (show all 3511)
# Title Authors PMID Year
1
Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy. 9 38
20389290 2010
2
[Cutaneous ulcers and glycogen storage disease type 1b]. 9 38
20470920 2010
3
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. 9 38
19649685 2010
4
Normoglycemia alone is insufficient to prevent long-term complications of hepatocellular adenoma in glycogen storage disease type Ib mice. 9 38
19376605 2009
5
[Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle]. 9 38
19951495 2009
6
GLUT2 mutations, translocation, and receptor function in diet sugar managing. 9 38
19223655 2009
7
Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults. 9 38
19138339 2009
8
Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib. 9 38
19008136 2009
9
Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib. 9 38
18835800 2008
10
3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase. 9 38
18950708 2008
11
Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease. 9 38
18661169 2008
12
Unclassified polysaccharidosis of the heart and skeletal muscle in siblings. 9 38
18691923 2008
13
A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): a case report. 9 38
18826620 2008
14
The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic. 9 38
18337460 2008
15
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. 9 38
18449899 2008
16
Danon disease: an unusual presentation of autism. 9 38
18555174 2008
17
Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib. 9 38
18420828 2008
18
AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia. 9 38
18362924 2008
19
Perioperative management of benign hepatic tumors in patients with glycogen storage disease type Ia. 9 38
18392715 2008
20
Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis. 9 38
18008183 2007
21
11beta-Hydroxysteroid Dehydrogenase Type 1 Regulation by Intracellular Glucose 6-Phosphate Provides Evidence for a Novel Link between Glucose Metabolism and Hypothalamo-Pituitary-Adrenal Axis Function. 9 38
17588937 2007
22
[Massive rhabdomyolysis revealing a McArdle disease]. 9 38
17383055 2007
23
Specific reduction of hepatic glucose 6-phosphate transporter-1 ameliorates diabetes while avoiding complications of glycogen storage disease. 9 38
17478431 2007
24
Glycogen storage disease type I--between chronic ambulatory follow-up and pediatric emergency. 9 38
17410288 2007
25
Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? 9 38
17196294 2007
26
Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice. 9 38
17006547 2007
27
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b. 9 38
16716283 2006
28
Deletion of the gene encoding the ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein (UGRP)/glucose-6-phosphatase catalytic subunit-beta results in lowered plasma cholesterol and elevated glucagon. 9 38
17023421 2006
29
Hyaluronidase increases the biodistribution of acid alpha-1,4 glucosidase in the muscle of Pompe disease mice: an approach to enhance the efficacy of enzyme replacement therapy. 9 38
17027913 2006
30
Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy. 9 38
16973206 2006
31
Bone marrow-derived cells require a functional glucose 6-phosphate transporter for normal myeloid functions. 9 38
16891306 2006
32
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. 9 38
17027861 2006
33
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis. 9 38
16487706 2006
34
[Glycogenesis Type II (M. Pompe). Selective failure of the respiratory musculature--a rare first symptom]. 9 38
16228159 2006
35
A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1. 9 38
16354226 2005
36
Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. 9 38
16212637 2005
37
Immunodetection of the expression of microsomal proteins encoded by the glucose 6-phosphate transporter gene. 9 38
15757503 2005
38
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. 9 38
15877279 2005
39
Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. 9 38
15671110 2005
40
Amelioration of neutrophil membrane function underlies granulocyte-colony stimulating factor action in glycogen storage disease 1b. 9 38
15888252 2005
41
Molecular characterization of Egyptian patients with glycogen storage disease type IIIa. 9 38
16189622 2005
42
[Successful treatment with infliximab of a patient with refractory sarcoidosis]. 9 38
15626311 2004
43
Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability. 9 38
15542400 2004
44
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. 9 38
15316959 2004
45
Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib. 9 38
15260472 2004
46
Simultaneous liver-kidney transplantation for glycogen storage disease type IA (von Gierke's disease). 9 38
15251364 2004
47
Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia. 9 38
15151508 2004
48
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. 9 38
15059622 2004
49
The human sugar-phosphate/phosphate exchanger family SLC37. 9 38
12811562 2004
50
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. 9 38
12930917 2003

Variations for Glycogen Storage Disease

ClinVar genetic disease variations for Glycogen Storage Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PYGM NM_005609.4(PYGM): c.148C> T (p.Arg50Ter) single nucleotide variant Pathogenic rs116987552 11:64527223-64527223 11:64759751-64759751
2 GAA NM_000152.5(GAA): c.-32-13T> G single nucleotide variant Pathogenic rs386834236 17:78078341-78078341 17:80104542-80104542
3 GYS2 NM_021957.4(GYS2): c.736C> T (p.Arg246Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918419 12:21721886-21721886 12:21568952-21568952
4 GAA NM_000152.5(GAA): c.1316T> A (p.Met439Lys) single nucleotide variant Pathogenic/Likely pathogenic rs747610090 17:78082617-78082617 17:80108818-80108818

Copy number variations for Glycogen Storage Disease from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 69951 12 56600000 58100000 Copy number PFKM Glycogen storage disease
2 100159 16 29961204 29975150 Deletion ALDOA Glycogen storage disease

Expression for Glycogen Storage Disease

Search GEO for disease gene expression data for Glycogen Storage Disease.

Pathways for Glycogen Storage Disease

Pathways related to Glycogen Storage Disease according to KEGG:

37
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Starch and sucrose metabolism hsa00500
3 Insulin signaling pathway hsa04910

Pathways related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 SLC37A4 PYGM PYGL PRKAG2 PHKG2 PHKB
2
Show member pathways
13.4 PYGM PYGL PHKG2 PHKB PHKA2 PHKA1
3
Show member pathways
12.88 PYGM PYGL PRKAG2 PHKG2 PHKB PHKA2
4
Show member pathways
12.85 PHKG2 PHKB PHKA2 PHKA1 GYS2 GYS1
5
Show member pathways
12.66 SLC37A4 PYGM PYGL PHKG2 PHKB PHKA2
6
Show member pathways
12.42 PRKAG2 PFKM GYS2 GYS1 GYG1 G6PC
7
Show member pathways
12.29 PRKAG2 PFKM GYS2 GYS1 G6PC
8
Show member pathways
12.16 PGAM2 PFKM ENO3 ALDOA
9
Show member pathways
12.16 SLC37A4 PYGM PYGL PHKG2 PHKB PHKA2
10
Show member pathways
12.11 PHKG2 PHKB PHKA2 PHKA1
11
Show member pathways
12.1 PYGM PYGL PFKM GYS2 GYS1 GYG1
12
Show member pathways
12.03 PRKAG2 PFKM GYS2 GYS1
13
Show member pathways
11.95 PYGM PYGL PRKAG2 GYS2 GYS1 G6PC
14 11.92 PYGM PYGL PRKAG2 PHKG2 PHKB PHKA2
15
Show member pathways
11.76 PGAM2 PFKM ALDOA
16
Show member pathways
11.7 GYS2 GYS1 GYG1
17 11.55 PYGM PYGL PHKG2 PHKB PHKA2 PHKA1

GO Terms for Glycogen Storage Disease

Cellular components related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.86 PYGM PYGL PRKAG2 PHKG2 PHKB PHKA2
2 ficolin-1-rich granule lumen GO:1904813 9.56 PYGL GYG1 ALDOA AGL
3 lysosomal lumen GO:0043202 9.5 LAMP2 GYG1 GAA
4 secretory granule lumen GO:0034774 9.46 PYGL GYG1 ALDOA AGL
5 inclusion body GO:0016234 9.37 GYS1 AGL
6 phosphorylase kinase complex GO:0005964 8.92 PHKG2 PHKB PHKA2 PHKA1
7 extracellular exosome GO:0070062 10.01 PYGM PYGL PGAM2 LAMP2 GBE1 GAA

Biological processes related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.99 PYGL LAMP2 GYG1 GAA ALDOA AGL
2 protein phosphorylation GO:0006468 9.97 PRKAG2 PHKG2 PHKB PHKA2 PHKA1
3 carbohydrate metabolic process GO:0005975 9.92 PYGM PYGL PHKG2 PHKB PHKA2 PHKA1
4 metabolic process GO:0008152 9.91 PYGM PYGL PFKM GYS2 GYS1 GAA
5 glucose homeostasis GO:0042593 9.83 SLC37A4 PYGL PFKM G6PC
6 gluconeogenesis GO:0006094 9.8 SLC37A4 PGAM2 G6PC ENO3 ALDOA
7 glycolytic process GO:0006096 9.78 PGAM2 PFKM ENO3 ALDOA
8 canonical glycolysis GO:0061621 9.76 PGAM2 PFKM ENO3 ALDOA
9 muscle cell cellular homeostasis GO:0046716 9.73 PFKM LAMP2 GAA ALDOA
10 generation of precursor metabolites and energy GO:0006091 9.73 PHKG2 PHKB PHKA2 PHKA1 GYS2 GBE1
11 striated muscle contraction GO:0006941 9.67 PGAM2 GAA ALDOA
12 glycogen biosynthetic process GO:0005978 9.63 PHKG2 GYS2 GYS1 GYG1 GBE1 AGL
13 response to glucose GO:0009749 9.56 SLC37A4 GYS2
14 fructose 1,6-bisphosphate metabolic process GO:0030388 9.55 PFKM ALDOA
15 glucose-6-phosphate transport GO:0015760 9.54 SLC37A4 G6PC
16 glycogen metabolic process GO:0005977 9.44 SLC37A4 PYGM PYGL PRKAG2 PHKG2 PHKB
17 glycogen catabolic process GO:0005980 9.43 PYGM PYGL PFKM GAA G6PC AGL

Molecular functions related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.89 PYGM PYGL PFKM GAA ALDOA
2 calmodulin binding GO:0005516 9.84 PHKG2 PHKB PHKA2 PHKA1
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.55 GBE1 GAA
4 phosphorylase activity GO:0004645 9.52 PYGM PYGL
5 fructose binding GO:0070061 9.51 PFKM ALDOA
6 transferase activity, transferring glycosyl groups GO:0016757 9.5 PYGM PYGL GYS2 GYS1 GYG1 GBE1
7 SHG alpha-glucan phosphorylase activity GO:0102499 9.46 PYGM PYGL
8 linear malto-oligosaccharide phosphorylase activity GO:0102250 9.43 PYGM PYGL
9 AMP binding GO:0016208 9.43 PYGL PRKAG2 PFKM
10 glycogen phosphorylase activity GO:0008184 9.4 PYGM PYGL
11 glycogen synthase activity, transferring glucose-1-phosphate GO:0061547 9.37 GYS2 GYS1
12 glycogen (starch) synthase activity GO:0004373 9.32 GYS2 GYS1
13 glucose binding GO:0005536 9.16 PYGL GYS1
14 phosphorylase kinase activity GO:0004689 8.92 PHKG2 PHKB PHKA2 PHKA1
15 transferase activity GO:0016740 10.13 PYGM PYGL PHKG2 PFKM GYS2 GYS1

Sources for Glycogen Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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