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Medical condition
Glycogen storage disease type I (Type Pournazarian) (GSD I) is an inherited disease that prevents the liver from properly breaking down stored glycogen
Glycogen storage disease type I
Glycogen_storage_disease_type_I
Medical condition
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting
Glycogen_storage_disease
Medical condition
Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal
Glycogen storage disease type II
Glycogen_storage_disease_type_II
Human disease caused by deficiency of a muscle enzyme
Glycogen storage disease type V (GSD5, GSD-V), also known as McArdle's disease, is a metabolic disorder, one of the metabolic myopathies, more specifically
Glycogen storage disease type V
Glycogen_storage_disease_type_V
Medical condition
Glycogen storage disease type III (GSD III) is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of carbohydrates)
Glycogen storage disease type III
Glycogen_storage_disease_type_III
Class of enzymes
media related to Glycogen phosphorylase. GeneReviews/NCBI/NIH/UW entry on Glycogen Storage Disease Type VI - Hers disease Glycogen+phosphorylase at the
Glycogen_phosphorylase
Metabolic disorders affecting a cell's lysosomes
Mucolipidoses; Mucolipidosis IV is a gangliosidosis Also, glycogen storage disease type II (Pompe disease) is a defect in lysosomal metabolism as well, although
Lysosomal_storage_disease
Glucose polymer used as energy store in animals
Glycogen is a multibranched polysaccharide of glucose that serves as a form of energy storage in animals, fungi, and bacteria. It is the main storage
Glycogen
German physician
specialized in glycogenesis and discovered glycogen storage disease type I (formerly known as von Gierke disease) in 1929. Edgar was born in 1877 the Prussian
Edgar_von_Gierke
Protein-coding gene in the species Homo sapiens
and glycogenolysis. Defects in the enzyme cause glycogen storage disease type I (von Gierke disease). Click on genes, proteins and metabolites below
G6PC
Genetic disorder in Quarter Horses and draft horses
Equine polysaccharide storage myopathy (EPSM, PSSM, EPSSM) is a hereditary glycogen storage disease of horses that causes exertional rhabdomyolysis. It
Equine polysaccharide storage myopathy
Equine_polysaccharide_storage_myopathy
Enzyme
to glycogen storage disease type I (GSD 1, von Gierke's disease). To be specific, mutations in the glucose-6-phosphatase-α lead to Glycogen Storage Disease
Glucose_6-phosphatase
Medical condition
Cystinosis Galactosemia Glycogen storage disease (type I) Hereditary fructose intolerance Lowe syndrome Tyrosinemia Wilson's disease Acquired disorders Amyloidosis
Proximal renal tubular acidosis
Proximal_renal_tubular_acidosis
Medical condition
Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. Danon disease is an X-linked lysosomal and glycogen storage disorder associated
Danon_disease
Topics referred to by the same term
Fantasy Type-0, a video game Glycogen storage disease type 0, a disease Type 0 civilization in the Kardashev scale of technological advancement Type-0 language
Type_0
Autosomal recessive conditions that affect ethnic Jews more frequently
I (26 November 2013). "Scientists Discover Gene That Predisposes Ashkenazi Jews to Schizophrenia". Haaretz Newspaper. "Glycogen Storage Disease Type Ia
Medical_genetics_of_Jews
Enzyme class, includes all types of glycogen/starch syntheses
signaling pathways. Mutations in the GYS1 gene are associated with glycogen storage disease type 0. In humans, defects in the tight control of glucose uptake
Glycogen_synthase
Glycogen storage disease Glycogen storage disease type 1B Glycogen storage disease type 1C Glycogen storage disease type 1D Glycogen storage disease type
List_of_diseases_(G)
Surname list
von Gierke (1877–1945), German physician Glycogen storage disease type I, also known as von Gierke disease, named for Edgar von Gierke H. F. Gierke III
Gierke
Biological process
the liver glucose cycle can lead to von Gierke's disease. Sencen, Lisa. "Glycogen Storage Disease Type I". NORD (National Organization for Rare Disorders)
Glucose_cycle
Topics referred to by the same term
type 2 Glutaric acidemia type 2 Glycogen storage disease type II Hyper-IgM syndrome type 2 Hyperfinite type II factor Type 2 connector, used for charging
Type_2
Class of genetic diseases
congenital metabolic diseases, with prominent examples of each class. Disorders of carbohydrate metabolism glycogen storage disease G6PD deficiency Disorders
Inborn_errors_of_metabolism
Class of enzymes
the mutation, one of two types will occur: either lactate dehydrogenase-A deficiency (also known as glycogen storage disease XI) or lactate dehydrogenase-B
Lactate_dehydrogenase
Mammalian protein involved in glycogen production
highly branched glycogen molecule. Mutations in this gene are associated with glycogen storage disease type IV (also known as Andersen's disease) in newborns
Glycogen_branching_enzyme
Medication
Genglycos, is a gene therapy medication used for the treatment of glycogen storage disease type Ia. Pariglasgene brecaparvovec is an adeno-associated virus
Pariglasgene_brecaparvovec
storage diseases (GSD) are a group of diseases caused by mutations related to glycogen metabolism. GSD type II (Pompe disease) GSD type V (McArdle disease) GSD
List of neuromuscular disorders
List_of_neuromuscular_disorders
Kidney disorder
Wilson's disease (a genetically inherited condition of copper metabolism), Lowe syndrome, tyrosinemia (type I), galactosemia, glycogen storage diseases, and
Fanconi_syndrome
Medical condition
comorbidity of late-onset Pompe disease (Glycogen storage disease type II). As both hyper- and hypothyroidism disrupts muscle glycogen metabolism, it is important
Hoffmann_syndrome
Terminal recessive genetic condition
Lafora disease is also a neurodegenerative disease that causes impairment in the development of brain (cerebral) cortical neurons and is a glycogen metabolism
Lafora_disease
beta-mannosidase deficiency Lysosomal glycogen storage disease with normal acid maltase activity Lysosomal storage disease "A to Z list of common illnesses
List_of_diseases_(L)
Medical condition
carbohydrate metabolism. Glycogen storage diseases are deficiencies of enzymes or transport proteins which impair glycogen synthesis, glycogen degradation or glycolysis
Inborn errors of carbohydrate metabolism
Inborn_errors_of_carbohydrate_metabolism
Medical condition where fat accumulates in the liver
alcohol use disorder. Metabolic abetalipoproteinemia, glycogen storage diseases, Weber–Christian disease, acute fatty liver of pregnancy, lipodystrophy Nutritional
Fatty_liver_disease
Muscular disease in which the muscle fibers do not function correctly
primarily affect muscle (G73.6/E74.0) Glycogen storage diseases, which may affect muscle (G73.6/E75) Lipid storage disorder (G72.89) Other myopathies Brody
Myopathy
Protein found in humans
When glycogen breakdown is compromised by mutations in the glycogen debranching enzyme, metabolic diseases such as Glycogen storage disease type III can
Glycogen_debranching_enzyme
Genetic condition causing non-cancerous tumours
PMID 11112665. Pal R, Xiong Y, Sardiello M (February 2019). "Abnormal glycogen storage in tuberous sclerosis complex caused by impairment of mTORC1-dependent
Tuberous_sclerosis
Chemical compound
nonalcoholic steatohepatitis and is also being investigated for glycogen storage disease type Ia. In 2023, Viking Therapeutics filed a lawsuit against the
VK2809
Medical condition
body, and Wilson's disease. Liver damage is also a clinical feature of alpha 1-antitrypsin deficiency and glycogen storage disease type II. In transthyretin-related
Liver_disease
Medical condition
hypoglycemia is listed below: Growth hormone deficiency Glycogen storage diseases Glycogen storage disease type IX is a particularly common cause of ketotic hypoglycemia
Ketotic_hypoglycemia
Muscular syndrome of horses
various types of ER, including sporadic (i.e., Tying-Up, Monday Morning Sickness/Disease, Azoturia) and chronic (i.e., Polysaccharide Storage Myopathy
Equine exertional rhabdomyolysis
Equine_exertional_rhabdomyolysis
Heart rate exceeding normal resting rate
2021). "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group". Neuromuscular
Tachycardia
Complete set of nucleic acid sequences for humans
mechanistic roles in gene or genome regulation (i.e. DNA sequences that impact cellular level activity such as cell type, condition, and molecular processes). There
Human_genome
Sudden fatigue during endurance sports
Muscle Glycogen Storage Disease study group (December 2021). "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui
Hitting_the_wall
Causes of low blood sugar in humans
hyperinsulinism, several types, both transient and persistent Inborn errors of carbohydrate metabolism such as glycogen storage disease Single episodes of hypoglycemia
List of causes of hypoglycemia
List_of_causes_of_hypoglycemia
False appearance of an athletic body due to disease or injury
Wechsler, Stephanie Burns; Weinstein, David A. (July 2010). "Glycogen Storage Disease Type III diagnosis and management guidelines". Genetics in Medicine
Pseudoathletic_appearance
Decrease in blood sugar
and thus hypoglycemia. The glycogen storage diseases associated with hypoglycemia include type 0, type I, type III, and type IV, as well as Fanconi syndrome
Hypoglycemia
Medical condition
Online Mendelian Inheritance in Man (OMIM): 611881 Orphanet: Glycogen storage disease due to aldolase A deficiency Kishi H, Mukai T, Hirono A, Fujii
Aldolase_A_deficiency
German legal scholar and historian (1841–1921)
von Gierke was a highly respected pathologist who discovered glycogen storage disease type I in 1929. Gierke's oldest daughter Anna was among the first
Otto_von_Gierke
Genetic multisystem copper-transport disease
the earlier stages of the disease, the biopsy typically shows steatosis (deposition of fatty material), increased glycogen in the nucleus, and areas of
Wilson's_disease
Human protein
glycogen storage disease type Ib, commonly referred to as von Gierke disease, in humans. A common symptom of this disease is a build-up of glycogen in
Glucose-6-phosphate exchanger SLC37A4
Glucose-6-phosphate_exchanger_SLC37A4
Enzyme replacement therapy drug
(ERT) orphan drug for treatment of Pompe disease (Glycogen storage disease type II), a rare lysosomal storage disorder (LSD). Chemically, the drug is an
Alglucosidase_alfa
Long carbohydrate polymers such as starch, glycogen, cellulose, and chitin
linear to highly branched polymers. Examples include storage polysaccharides such as starch, glycogen, and galactogen and structural polysaccharides such
Polysaccharide
Protein family
"Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib". FEBS Letters. 419 (2–3): 235–8. doi:10.1016/s0014-5793(97)01463-4
Major_facilitator_superfamily
spinal muscular atrophy Pariglasgene brecaparvovec (Genglycos): glycogen storage disease type Ia Prademagene zamikeracel (Zevaskyn): recessive dystrophic
List_of_gene_therapies
Health problem from genome abnormalities
to develop the disease. Examples of this type of disorder are Huntington's disease, neurofibromatosis type 1, neurofibromatosis type 2, Marfan syndrome
Genetic_disorder
Hormone produced by the liver
role in the partitioning of the storage of nutrient energy by its action on glucose uptake and formation of glycogen in muscle. Hepatalin accounts for
Hepatalin
glycogen storage disease MeSH C18.452.648.202.449.448 – glycogen storage disease type I MeSH C18.452.648.202.449.500 – glycogen storage disease type II
List_of_MeSH_codes_(C18)
Hypothyroidism in infancy or childhood
comorbidity of late-onset Pompe disease (Glycogen storage disease type II). As both hyper- and hypothyroidism disrupts muscle glycogen metabolism, it is important
Kocher–Debre–Semelaigne syndrome
Kocher–Debre–Semelaigne_syndrome
Exercise phenomenon
muscle glycogen storage diseases (muscle GSDs), an inborn error of carbohydrate metabolism impairs either the formation or utilization of muscle glycogen. As
Second_wind
Inactivation of one parent's X chromosome more so than the other's
imprinting might be involved with the X-chromosome skewing. X-linked glycogen storage disease (GSD IXa) is a metabolic disorder typically only seen in males
Skewed_X-inactivation
Protein-coding gene in the species Homo sapiens
glycogen storage disease type II (Pompe disease). This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to
Acid_alpha-glucosidase
Abnormally low concentration of neutrophils (a type of white blood cell) in the blood
Felty syndrome Systemic lupus erythematosus HIV/AIDS infection Glycogen storage disease Cohen syndrome Congenital immune deficiencies, e.g. ELA2 mutation
Neutropenia
Inner lining of the vagina
Intermediate cells make abundant glycogen and store it. Estrogen induces the intermediate and superficial cells to fill with glycogen. The intermediate cells contain
Vaginal_epithelium
Class of toxic sphingolipids involved in neurological and metabolic disorders
sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control". Molecular Genetics and Metabolism
1-Deoxysphingolipids
Enlargement or overgrowth of a muscle organ
hypertrophy: sarcoplasmic hypertrophy, which focuses more on increased muscle glycogen storage; and myofibrillar hypertrophy, which focuses more on increased myofibril
Muscle_hypertrophy
One of three major types of muscle
needed with creatine kinase. Muscles also keep a storage form of glucose in the form of glycogen. Glycogen can be rapidly converted to glucose when energy
Skeletal_muscle
Enzyme involved in glycogenolysis
phosphorylase kinase genes are the cause of glycogen storage disease type IX (GSD type IX) and GSD type VI (formerly GSD type VIII), which can affect the liver
Phosphorylase_kinase
glycogen storage disease MeSH C16.320.565.202.449.448 – glycogen storage disease type I MeSH C16.320.565.202.449.500 – glycogen storage disease type II
List_of_MeSH_codes_(C16)
Medical technology
Approves First Therapy for Patients aged 8 years and older with Glycogen Storage Disease Type Ia". U.S. Food and Drug Administration (FDA). 19 August 2026
Gene_therapy
Peptide hormone
PMC 4450131. PMID 25735473. Kreitzman SN, Coxon AY, Szaz KF (July 1992). "Glycogen storage: illusions of easy weight loss, excessive weight regain, and distortions
Insulin
Permanent shortening of a muscle
Muscle Glycogen Storage Disease study group (December 2021). "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui
Muscle_contracture
Chemical compound
deficiency of muscle glycogen phosphorylase is known as glycogen storage disease type V (McArdle Disease). To be utilized in cellular catabolism it must first
Glucose_1-phosphate
Chronic disease of the liver, characterized by fibrosis
heart failure, which leads to liver congestion Galactosemia Glycogen storage disease type IV Cystic fibrosis Hepatotoxic drugs or toxins, such as acetaminophen
Cirrhosis
American physician (1901–1963)
the disease. Andersen was also active in researching other diseases that are diagnosed in children. She was the first to describe Glycogen storage disease
Dorothy_Hansine_Andersen
Muscle disorders caused by mitochondrial dysfunction
of panthotenic acid (B5) and folate (B9). Pompe disease (glycogen storage disease type II), another type of metabolic myopathy, has secondary mitochondrial
Mitochondrial_myopathy
Enzyme replacement therapy medication
replacement therapy medication used for the treatment of glycogen storage disease type II (Pompe disease). The most common side effects include headache, fatigue
Avalglucosidase_alfa
Naturally produced monosaccharide
synthesize some fat types and have other purposes. Glycogen is the body's "glucose energy storage" mechanism, because it is much more "space efficient"
Glucose
deficiency) Neutropenia with cardiac and urogenital malformations Glycogen storage disease type 1b Cohen syndrome Clericuzio syndrome Cyclic neutropenia X-linked
List of primary immunodeficiencies
List_of_primary_immunodeficiencies
Condition in which damaged skeletal muscle breaks down rapidly
McArdle's disease, phosphofructokinase deficiency, glycogen storage diseases VIII, IX, X and XI Lipid metabolism defects: carnitine palmitoyltransferase I and
Rhabdomyolysis
Glucose polymer used as energy store in plants
bonds occur only at branch points. The same type of linkage is found in the animal reserve polysaccharide glycogen. By contrast, many structural polysaccharides
Starch
Presence of an excess of serum proteins in the urine
erythematosus Granulomatosis with polyangiitis Rheumatoid arthritis Glycogen storage disease type 1 Goodpasture syndrome Henoch–Schönlein purpura A urinary tract
Proteinuria
Metabolic enzyme
CDG syndrome type 1t (CDG1T), formerly known as glycogen storage disease type 14 (GSD XIV). The disease is both a glycogenosis and a congenital disorder
Phosphoglucomutase
Concentration of glucose present in the blood (Glycaemia)
form of glycogen; in fasting individuals, blood glucose is maintained at a constant level by releasing just enough glucose from these glycogen stores in
Blood_sugar_level
Protein-coding gene in the species Homo sapiens
the shorter isoform localizes to the endoplasmic reticulum. Glycogen storage disease type I GRCh38: Ensembl release 89: ENSG00000124564 – Ensembl, May
SLC17A3
Connection of the sympathetic nervous system and adrenal medulla
ingestion of and storage of carbohydrates and fat. Under normal conditions, adrenal hormone receptors, type I and type II, mediate the storage of carbohydrates
Sympathoadrenal_system
Group of endocrine diseases characterized by high blood sugar levels
sources: the intestinal absorption of food; the breakdown of glycogen (glycogenolysis), the storage form of glucose found in the liver; and gluconeogenesis
Diabetes
Liver damage caused by a drug or chemical
named due to their effect on the carbohydrate mechanism. They promote glycogen storage in the liver. An enlarged liver is a rare side-effect of long-term
Hepatotoxicity
Medical condition
congenital diseases such as Shwachman–Diamond syndrome, Barth syndrome, Chédiak–Higashi syndrome, WHIM syndrome, and glycogen storage disease type Ib. A further
Severe_congenital_neutropenia
Vertebrate organ involved in metabolism
production of a number of hormones, conversion and storage of nutrients such as glucose and glycogen, and the decomposition of red blood cells. Anatomical
Liver
Medical condition
absorption of the just-digested blood glucose as glycogen into the liver for metabolism or storage, thereby lowering glucose levels in the blood. In
Reactive_hypoglycemia
Type of membrane transport proteins
where 2 Na+ ions and 1 I− ion is coupled to transfer the iodide. NIS activity helps in the diagnosis and treatment of thyroid disease, including the highly
Cotransporter
Glycogen storage disease XV; 613507; GYG1 Glycogen storage disease type 0; 240600; GYS2 Glycogen storage disease, type IXa1; 306000; PHKA2 Glycogen storage
List_of_OMIM_disorder_codes
Mammalian protein found in Homo sapiens
on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known
PFKM
Delayed relaxation of muscles following contraction
normal. Other diseases that exhibit pseudo-myotonia are myositis, glycogen storage diseases, hyperkalemic periodic paralysis, root disease, anterior horn
Myotonia
Rare benign tumor of the liver
(diaphoresis).[citation needed] Hepatic adenomas are associated with glycogen storage diseases, type 1 diabetes, as well as anabolic steroid use. Hepatic adenoma
Hepatocellular_adenoma
American biochemist
1970. She played a similar role in therapeutic research into glycogen storage disease type I. Her husband, David H. Brown, was also a scientist and they
Barbara_Illingworth_Brown
Muscular diseases caused by defects in metabolic processes
main categories of metabolic myopathies are listed below: Muscle glycogen storage diseases (Muscle GSDs) and other inborn errors of carbohydrate metabolism
Metabolic_myopathy
Sugars that contain free OH group at the anomeric carbon atom
dextrose equivalent (DE). Glycogen is a highly branched polymer of glucose that serves as the main form of carbohydrate storage in animals. It is a reducing
Reducing_sugar
Series of interconnected biochemical reactions
death of the cell at an early stage. However, some mutations (glycogen storage diseases and other inborn errors of carbohydrate metabolism) are seen with
Glycolysis
Syndrome where the sinus heart rate is inexplicably faster than expected
Muscle Glycogen Storage Disease study group) (December 2021). "Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui
Inappropriate sinus tachycardia
Inappropriate_sinus_tachycardia
Jewish genetic screening organization
following diseases: Tay–Sachs disease Familial dysautonomia Cystic fibrosis Canavan disease Glycogen storage disease (type 1) Fanconi anemia (type C) Bloom
Dor_Yeshorim
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