Enzyme abnormal accumulation of glycogen glycogen storage disease type i. Medical search. Frequent questions

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by pathogenic variants in the AGL gene, which encodes the glycogen debranching enzyme (GDE), a key enzyme responsible for glycogen degradation. (jci.org)
Niemann-Pick disease is caused by an abnormal lysosomal lipid enzyme degradation system, and it is therefore considered to be a lysosomal storage disease. (pediagenosis.com)
Glycogen storage diseases (GSDs) refer to a group of inherited disorders caused by the absence of essential enzymes in the synthesis or degradation of glycogen [ 1 , 2 ]. (biomedcentral.com)
To produce energy G-6-PO 4 (derived from monosaccharides from dietary CHO or produced from glycogen degradation by glycogenolysis) is converted by a series of enzyme reactions in the glycolytic pathway to form pyruvate or lactic acid, then to acetyl-CoA, which is also produced from fatty acid oxidation and degradation of the carbon skeleton of glucogenic amino acids ( Table 17.1 ). (oncohemakey.com)
Simplified pathway of glycogen synthesis and degradation. (capsulehealth.one)
Our results reveal that malin restoration at an advanced stage of the disease arrests the accumulation of LBs in brain and muscle, induces the degradation of laforin and glycogen synthase bound to the aggregates, and ameliorates neuroinflammation. (ibecbarcelona.eu)
Protein targeting to glycogen (PTG) is a scaffolding protein that targets protein phosphatase 1α (PP1α) to glycogen, and links it to enzymes involved in glycogen synthesis and degradation. (jci.org)

[ 1 ] In 1952, Cori and Cori demonstrated that glucose-6-phosphatase (G6Pase) deficiency was a cause of GSD type I. (medscape.com)
[ 3 ] Thus, GSD type I is divided into GSD type Ia caused by G6Pase deficiency and GSD type Ib resulting from deficiency of a specific translocase T1. (medscape.com)
GSD type Ic is deficiency of translocase T2 that carries inorganic phosphates from microsomes into the cytosol and pyrophosphates from the cytosol into microsomes. (medscape.com)
GSD type Id is deficiency in a transporter that translocates free glucose molecules from microsomes into the cytosol. (medscape.com)
GSD type II, also known as alpha glucosidase deficiency (GAA, acid maltase deficiency) or Pompe disease, is a prototypic lysosomal disease. (medscape.com)
Its clinical presentation clearly differs from other forms of GSD, because it is caused by the deficiency of the lysosomal enzyme, alpha-1,4-glucosidase, leading to the pathologic accumulation of normally structured glycogen within the lysosomes of most tissues, differs Three forms of the disease exist: infantile-onset, late-onset juvenile and adult onset. (medscape.com)
It is an autosomal recessive disorder in which there is an AGL gene mutations which causes deficiency in glycogen debranchinging enzyme and limited storage of dextrin. (medscape.com)
GSD type IV, also known as amylopectinosis, Glycogen Branching enzyme deficiency (GBE) or Andersen disease, is a rare disease that leads to early death. (medscape.com)
GBE1 gene mutations that cause GSD IV lead to a shortage (deficiency) of the glycogen branching enzyme. (medlineplus.gov)
[ 3 ] proposed that a transport defect of glucose-6-phosphate (G6P) into the microsomal compartment may be present in some patients with GSD type I. Thus, GSD type I is divided into GSD type Ia caused by G6Pase deficiency and GSD type Ib resulting from deficiency of a specific translocase T1. (medscape.com)
Muscle phosphorylase deficiency adversely affecting the glycolytic pathway in skeletal musculature causes GSD type V. Like other forms of GSD, McArdle disease is heterogeneous. (medscape.com)
Hepatic phosphorylase deficiency or deficiency of other enzymes that form a cascade necessary for liver phosphorylase activation cause the disease. (medscape.com)
Both sexes are equally affected because the deficiency of glycogen-branching enzyme activity is inherited as an autosomal-recessive trait. (medscape.com)
Glycogen debranching enzyme deficiency in glycogen storage disease type III (GSD III) results in excessive glycogen accumulation in multiple tissues, primarily the liver, heart, and skeletal muscle. (jci.org)
Glycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. (biomedcentral.com)
Glycogen storage disease type XII (GSD XII) is an ultra-rare autosomal recessive disorder caused by aldolase A (ALDOA) deficiency, characterized by hemolytic anemia and rhabdomyolysis with or without myopathy or intellectual disability. (biomedcentral.com)
Glucose-6-phosphatase deficiency (G6P deficiency), or Hepatorenal glycogenosis, also known as Von Gierke disease is a type of glycogen storage disease (GSDI) characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. (capsulehealth.one)
Glycogen storage disease (GSDI) due to glucose-6-phosphatase (G6P) deficiency characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. (capsulehealth.one)
Deficiency of galactocerebrosidase results in the accumulation of galactosylceramide within the lysosomes of Schwann cells and oligodendrocytes which eventually results in apoptosis with secondary abnormal activation of microglia and macrophages with subsequent demyelination and gliosis 2,9,10 . (radiopaedia.org)
In certain metabolic disorders ( ADA and PNP deficiency) enzyme substitution therapy can be applied. (lu.se)

Cellular metabolism consists of numerous interconnected pathways that are catalyzed by enzymes in a series of stepwise biochemical reactions. (newworldencyclopedia.org)
Cellular metabolism, involving the synthesis and breakdown of complex organic molecules, requires harmonious coordination of the various enzymes, biochemical reactions, and so forth. (newworldencyclopedia.org)
The instructions for building nearly all the enzymes involved in metabolism are stored as deoxyribonucleic acid (DNA) in the nucleus of the cell. (newworldencyclopedia.org)
In 1908, physician Sir Archibald Garrod coined the term "inborn errors of metabolism" to suggest that defects in specific biochemical pathways were due to an inadequate supply or a lack of a given enzyme. (newworldencyclopedia.org)
inborn errors of metabolism are caused by mutant genes that produce abnormal enzymes whose function is altered. (newworldencyclopedia.org)
one of the enzymes of glycogen metabolism. (equimount.com)
that occur when there is a defect in the enzymes that are involved in the metabolism of glycogen, often resulting in growth abnormalities, weakness, a large liver, low blood sugar, and confusion. (msdmanuals.com)
Commonly the term metabolism defines the breakdown of food and how its components (carbohydrates, fats and proteins) are transformed into energy via a sequence of chemical reactions (metabolic pathways) which are controlled by large numbers of different enzymes. (oncohemakey.com)
Figure 17.1 illustrates the metabolic processes involved in the overall metabolism of carbohydrates, fats and protein including the catabolic processes to produce energy and urea (the product of the detoxification of the nitrogen moiety of amino acids) and anabolic processes to form tissue protein and energy stores, glycogen and lipids. (oncohemakey.com)
The end result is that glycogen can't be broken down into glucose in liver cells, so glucose metabolism goes awry, resulting in symptoms like low blood sugar, weakness and poor growth. (capsulehealth.one)
Schematic of the pathways linked to glycogen metabolism. (capsulehealth.one)
Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism that is characterized by excessive deposition of copper in the liver, brain, and other tissues (see the image below). (medscape.com)
Furthermore, unlike other inborn errors of metabolism, unfortunately enzyme replacement therapy and substrate inhibition are not yet (as of March 2019) available 1 . (radiopaedia.org)
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. (lookformedical.com)
There is also a genetic factor that can increase your tendency for a large appetite and also affect metabolism, but the quantity and types of foods consumed in relation to exercise has the greatest effect on your weight. (herbalreality.com)

This hyperactivity of mutant equine glycogen synthase explains the increased muscle glycogen and the accumulation of polysaccharide that leads to the clinical problems in affected horses. (rvc.ac.uk)
Polysaccharide storage myopathy is a glycogen storage disorder and is characterized by the abnormal accumulation of the normal form of sugar stored in muscle (glycogen) as well as an abnormal form of sugar (polysaccharide) in muscle tissue. (standleeforage.com)
Muscle glycogen concentrations in affected horses are up to 4 times greater than in normal horses. (standleeforage.com)
We know that both are the result of the abnormal accumulation of muscle glycogen which is the storage form of glucose in muscles. (standleeforage.com)

Another enzyme, glycogen synthase, helps in the conversion of glucose into Glycogen. (xcode.life)
A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase. (rvc.ac.uk)
These biochemical reactions frequently involve cofactors, often vitamins, which help the specific enzyme function, e.g. vitamin B 6 is the cofactor for the enzyme cystathionine β synthase which converts the amino acid homocysteine into cystathionine. (oncohemakey.com)
These mice have reduced glycogen stores in adipose tissue, liver, heart, and skeletal muscle, corresponding with decreased glycogen synthase activity and glycogen synthesis rate. (jci.org)

The GBE1 gene provides instructions for making the glycogen branching enzyme. (medlineplus.gov)
This enzyme has a molecular mass of 73.6 kDa, and is coded for by the gene glgX. (wikipedia.org)
The gene that is responsible for the malfunction of the enzyme can pass on from the parent generation to the next, making it hereditary . (xcode.life)
Therapies may include a restrictive diet, dietary supplements, and toxin-removal procedures, as well as enzyme replacement, gene transfer, or organ transplantation. (newworldencyclopedia.org)
As an autosomal recessive monogenic disease, MSUD represents an ideal target for liver-directed gene therapy since clinical OLT data suggests that incomplete restoration of liver BCKD enzyme activity (representing 9-13% of body BCKD activity 10 ) is fully therapeutic. (nature.com)
Type A and type B disease are similar in that the ASM gene, which encodes the acid sphingomyelinase enzyme, is mutated. (pediagenosis.com)
Niemann-Pick type C disease, which is caused by a mutation in the NPC1 or the NPC2 gene, does not involve any cutaneous findings. (pediagenosis.com)
In many hereditary metabolic disorders, both parents of the affected child carry a copy of the abnormal gene. (msdmanuals.com)
Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. (msdmanuals.com)
Type 1 PSSM is caused by a mutation in the GYS1 gene. (standleeforage.com)
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is an X-linked condition caused by pathogenic variants in the iduronate-2-sulfatase gene. (cdc.gov)
Glycogen storage disease type I, also called Von-Gierke's disease, is a genetic disorder caused by a mutation in the glucose 6 phosphatase gene on chromosome 17. (capsulehealth.one)
which means only one copy of the abnormal gene can cause the disorder in boys. (merckmanuals.com)
Lafora disease is a rare disorder caused by loss of function mutations in either the EPM2A or NHLRC1 gene. (ibecbarcelona.eu)
Abstract Lafora disease is a fatal neurodegenerative childhood dementia caused by loss-of-function mutations in either the laforin or malin gene. (ibecbarcelona.eu)
As a monogenic disorder, Lafora disease is a good candidate for gene therapy-based approaches. (ibecbarcelona.eu)
Here we evaluated the effect of restoring malin in a malin-deficient mouse model of Lafora disease as a proof of concept for gene replacement therapy. (ibecbarcelona.eu)
Krabbe disease is caused by mutations in the GALC gene (mapped to chromosome 14q) which encodes galactocerebrosidase, an enzyme that degrades galactosylceramide, a normal constituent of myelin. (radiopaedia.org)
Type I PSSM horses have a genetic mutation of the GYS1 gene that causes an enzyme to excessively convert sugar into its storage form (glycogen), rendering the sugar unavailable to meet the energy needs of the muscle. (rutgers.edu)

The hallmark of the disease is the accumulation of poorly branched glycogen in the form of aggregates known as Lafora bodies in the brain and other tissues. (ibecbarcelona.eu)
Consequently, glycogen synthesis is impaired and leads to accumulation of poorly branched glycogen known as polyglucosan. (bvsalud.org)

These results identify a primary role of astrocytes in the pathophysiology of Lafora disease and have important implications for other conditions in which glycogen abnormally accumulates in astrocytes, such as Adult Polyglucosan Body disease and the buildup of Corpora amylacea in aged brains. (ibecbarcelona.eu)

GSD type Ia demonstrates deficient G6Pase activity in the fresh and frozen liver tissue. (medscape.com)
Finally, a subset of patients with clinically diagnosed adult polyglucosan body disease (APBD) have deficient glycogen-branching enzyme activity and diffuse CNS and peripheral nervous system dysfunction. (medscape.com)
Deficient glycogen-branching enzyme activity results in the formation of abnormal glycogen with long, unbranched outer chains and decreased solubility. (medscape.com)
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disorder caused by pathogenic variants in GBE1 which results in reduced or deficient glycogen branching enzyme activity. (bvsalud.org)
If further testing is performed, which of the following enzymes is most likely to be deficient in this patient? (osmosis.org)
Fabry disease is a rare, x-linked lysosomal storage disorder in which an enzyme called alpha-galactosidase A is deficient. (osmosis.org)

Together with phosphorylase, glycogen debranching enzymes function in glycogen breakdown and glucose mobilization. (wikipedia.org)
When phosphorylase has digested a glycogen branch down to four glucose residues, it will not remove further residues. (wikipedia.org)
Glycogen debranching enzymes assist phosphorylase, the primary enzyme involved in glycogen breakdown, in the mobilization of glycogen stores. (wikipedia.org)
Phosphorylase can only cleave α-1,4- glycosidic bond between adjacent glucose molecules in glycogen but branches also exist as α-1,6 linkages. (wikipedia.org)
because 1 in 10 residues is branched, cleavage by phosphorylase alone would not be sufficient in mobilizing glycogen stores. (wikipedia.org)
Before phosphorylase can resume catabolism, debranching enzymes perform two functions: 4-α-D-glucanotransferase (EC 2.4.1.25), or glucosyltransferase, transfers three glucose residues from the four-residue glycogen branch to a nearby branch. (wikipedia.org)
Thus the debranching enzymes, transferase and α-1,6- glucosidase converts the branched glycogen structure into a linear one, paving the way for further cleavage by phosphorylase. (wikipedia.org)
Glycogen Phosphorylase and glycogen debranching enzymes help in unraveling the molecule to release glucose and expend energy. (xcode.life)
For example, the mutations responsible for a number of autosomal recessive conditions have been found, including myo-neuro-gastrointestinal encephalomyopathy (MNGIE, thymidine phosphorylase), complex I (NDUF) and IV (SURF-1) Leigh's disease, mtDNA depletion (dGuOK, TK) and some forms of mtDNA deletion syndromes (polymerase gamma, twinkle, ANT). (essayempire.com)

Abnormal glycogen molecules called polyglucosan bodies accumulate in cells, leading to damage and cell death. (medlineplus.gov)
As we need to conserve some of this energy, these glucose molecules are combined back into glycogen. (xcode.life)
A metabolic disorder is any disease or disorder that negatively affects the biochemical reactions through which individual animal cells process nutrient molecules (such as the components of carbohydrates , proteins , and fats ) to yield energy or perform the functions necessary to sustain life (such as building complex molecules and creating cellular structure). (newworldencyclopedia.org)
in the absence of a particular enzyme, the abnormal or unregulated synthesis of complex molecules might result. (newworldencyclopedia.org)
Anabolism is the formation and storage of complex compounds needed for growth, tissue repair and energy storage from simpler molecules. (oncohemakey.com)
Lysosomes contain enzymes that break down (metabolize) many types of molecules entering a cell. (merckmanuals.com)
When the enzymes do not work correctly, the molecules build up, causing damage in many areas in the body. (merckmanuals.com)
Mucopolysaccharidoses occur when the body lacks enzymes needed to break down and store complex sugar molecules (glycosaminoglycans). (merckmanuals.com)
If carbohydrate or fat consumption exceeds your needs then the glucose-like molecules are stored as glycogen reserves for potentially needed energy release in the muscles and liver. (herbalreality.com)
If the glycogen bank is full then the overflow gets laid down as fat molecules in the fat cells. (herbalreality.com)

An essential pathologic finding is the accumulation of normally structured glycogen in most tissues. (medscape.com)
Glycogen-storage disease type IV is actually a clinically heterogeneous disorder in which the age of onset, specific organ involvement, severity of symptoms, and degree of accumulation of abnormal glycogen in different tissues vary. (medscape.com)
We recently reported that an adeno-associated virus vector expressing a bacterial debranching enzyme (pullulanase) driven by the ubiquitous CMV enhancer/chicken β-actin (CB) promoter cleared glycogen in major affected tissues of infant GSD IIIa mice. (jci.org)
Loss of GDE function leads to excessive accumulation of abnormal glycogen (limit dextrin) in multiple tissues, primarily the liver, heart, and skeletal muscles. (jci.org)
The disease results in massive hepatosplenomegaly caused by the excessive accumulation of sphingomyelin in various tissues. (pediagenosis.com)
Zinc has "mimetic" activity where it is involved in a range of functions including insulin receptor signal transduction, insulin storage, secretion and tissues/organelle distribution, and inhibition of protein tyrosine phosphatases [ 5 - 8 ]. (hindawi.com)
Treatment of lysosomal storage disorders varies depending on the substances that accumulate in the blood and tissues. (merckmanuals.com)
The hallmark of the disease is the accumulation of abnormal glycogen aggregates known as Lafora bodies (LBs) in the brain and other tissues. (ibecbarcelona.eu)
A type of steroid (not a corticosteroid like prednisone, cortisone, or dexamethasone) which promotes the building of tissues, like muscle. (mysanantoniovet.com)

Until now, no-one knew the precise mechanism by which the mutation caused increased enzyme activity in muscle. (rvc.ac.uk)

A subgroup of patients, primarily people of Ashkenazi Jewish descent, have clinically diagnosed polyglucosan body disease and decreased glycogen-branching enzyme activity. (medscape.com)
Histological detail of muscle from a horse with severe type1 polysaccharide storage myopathy, revealing the polyglucosan inclusions and muscle fibre disruption. (rvc.ac.uk)

The inability of muscle cells to break down glycogen for energy leads to muscle weakness and wasting. (medlineplus.gov)
Glycogen storage diseases are caused by the lack of an enzyme needed to change glucose into glycogen and break down glycogen into glucose. (msdmanuals.com)

Some severe diseases, such as many of the lipid storage diseases, currently have no effective therapy. (newworldencyclopedia.org)
These data suggest that PTG plays a critical role in glycogen synthesis and is necessary to maintain the appropriate metabolic balance for the partitioning of fuel substrates between glycogen and lipid. (jci.org)
The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. (lookformedical.com)

For practical purposes, depending on the enzyme activity and the presence of mutations in the G6Pase and T genes, respectively, GSD type I may be subdivided into 2 major forms. (medscape.com)
When glycogen breakdown is compromised by mutations in the glycogen debranching enzyme, metabolic diseases such as Glycogen storage disease type III can result. (wikipedia.org)

Proteins that catalyze both functions are referred to as glycogen debranching enzymes (GDEs). (wikipedia.org)
For this process to take place, some special proteins called enzymes (biocatalysts) aid the formation and deformation of glycogen. (xcode.life)
Carbohydrates Carbohydrates, proteins, and fats are the main types of macronutrients in food (nutrients that are required daily in large quantities). (msdmanuals.com)
The aminotransferase enzymes catalyze chemical reactions in which an amino group from one amino acid (amino acids are building blocks of proteins) is transferred from a donor molecule to a recipient molecule, hence, the name 'aminotransferases. (medicinenet.com)
An initial step in detecting liver damage is a simple blood test to determine the level of certain liver enzymes (proteins) in the blood. (medicinenet.com)
Enzymes are proteins that are present throughout the body, each with a unique function. (medicinenet.com)
The actions of the proteins that control the uptake, storage, and distribution of zinc, the zinc transporters, are under intense investigation due to their emerging role in type 2 diabetes. (hindawi.com)
Enzymes themselves are proteins. (oncohemakey.com)
Tauopathies are a group of neurodegenerative diseases characterized by the hyperphosphorylation and deposition of tau proteins in the brain. (ibecbarcelona.eu)
Insulin produces the dephosphorylation of only a small subset of proteins at discrete locations, whereas PP1 is ubiquitously expressed and is found in virtually all cellular compartments, suggesting that mechanisms exist for the targeted regulation of PP1 in insulin-responsive cells that selectively permit activation of the enzyme only at these sites. (jci.org)

The conditions are marked by an abnormal accumulation of catabolic material within lysosomes. (childrensmercy.org)

Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. (medlineplus.gov)
People with this type of the disorder can also have hypotonia and muscle weakness (myopathy). (medlineplus.gov)
Generally, the severity of the disorder is linked to the amount of functional glycogen branching enzyme that is produced. (medlineplus.gov)
The disorder is characterized by the appearance of abnormal, relatively insoluble glycogen with long, unbranched outer chains that result from defective glycogen-branching enzyme activity. (medscape.com)
Maple syrup urine disease (MSUD) is a rare recessively inherited metabolic disorder causing accumulation of branched chain amino acids leading to neonatal death, if untreated. (nature.com)
Galactosemia is a rare autosomal recessive disorder that results from a defect in the enzyme galactose-1- phosphate uridyltransferase. (pediagenosis.com)
In 2008, researchers at the University of Minnesota revealed the genetic cause of type 1 Polysaccharide Storage Myopathy (PSSM1), a common disorder associated with exertional rhabdomyolysis in horses. (rvc.ac.uk)
It is a common metabolic disorder that is characterized by chronic hyperglycemia coupled with reduced life expectancy resulting from debilitating disease states that include heart disease, stroke, peripheral neuropathy, and renal disease [ 2 ]. (hindawi.com)
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. (nih.gov)
Fucosidosis is a rare inherited autosomal recessive lysosomal storage disorder , hypomyelinating disorder , and mucopolysaccharidosis -like disorder, characterized by multiorgan accumulation of fucose-containing products. (radiopaedia.org)
Krabbe disease , also known as globoid cell leukodystrophy , is an autosomal recessive lysosomal storage disorder resulting in damage to cells involved in myelin turnover. (radiopaedia.org)

The childhood neuromuscular type of GSD IV develops in late childhood and is characterized by myopathy and dilated cardiomyopathy. (medlineplus.gov)
Polysaccharide Storage Myopathy is a muscle disease that occurs primarily in horses with Quarter Horse bloodlines such as Quarter Horses, Paint Horses and Appaloosas. (standleeforage.com)
Polysaccharide Storage Myopathy also occurs in other breeds including Drafts, Draft crossbreeds, and Warmbloods. (standleeforage.com)
There are several different abbreviations used to describe Polysaccharide Storage Myopathy including PSSM, EPSM and EPSSM. (standleeforage.com)
Chronic ER can be broken into two specific diseases: Recurrent exertional rhabdomyolysis (RER) and Polysaccharide storage myopathy (PSSM). (rutgers.edu)

Cirrhosis is defined histologically as a diffuse hepatic process characterized by fibrosis and conversion of the normal liver architecture into structurally abnormal nodules. (medscape.com)

A pathologic condition resulting from accumulation of acid in, or loss of base, from the body. (wildliferesearch.com)
Several reports have demonstrated that the accumulation of this abnormal glycogen underlies all the pathologic traits of the disease. (ibecbarcelona.eu)

Hypoglycemia is not a common feature in glycogen-storage disease type IV. (medscape.com)
All of the patients showed normalized liver enzymes after LT with no sign of hypoglycemia. (biomedcentral.com)
Although currently there is no therapy available for this disease, the guidelines for the management of other forms of glycogen storage diseases recommend a nutritional therapy in order to avoid hypoglycemia or prevent exercise-induced rhabdomyolysis. (biomedcentral.com)

While the use of a ubiquitous promoter fully and sustainably rescued the disease (long-term survival, normal phenotype and correction of biochemical abnormalities), liver-specific expression of BCKDHA led to partial, though sustained rescue. (nature.com)
It is characterized by a cluster of risk factors of atherosclerosis including insulin resistance, hyperinsulinemia, impaired glucose tolerance or type 2 diabetes, hypertension, dyslipidemia, and coagulation abnormalities. (erudit.org)
PCOS is a heterogeneous disease characterized by hyperandrogenism, dysfunctional ovulation, and polycystic ovary morphology, accompanied by metabolic abnormalities, such as insulin resistance (IR) and obesity. (biomedcentral.com)
A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment. (lookformedical.com)

There are a plethora of metabolic diseases that can have various cutaneous skin findings. (pediagenosis.com)

Glycogen storage disease (GSD) type I, also known as von Gierke disease, is a group of inherited autosomal recessive metabolic disorders of the glucose-6- phosphatase system which helps maintain glucose homeostasis. (medscape.com)
Metabolic disorders typically result when an enzyme necessary for some step in a metabolic process is missing or improperly constructed due to a genetic defect. (newworldencyclopedia.org)
Maple syrup urine disease (MSUD, MIM: 248600) is one of the earliest described metabolic disorders. (nature.com)
Three such metabolic disorders are Niemann-Pick disease, von Gierke disease, and galactosemia. (pediagenosis.com)
Severe neurological disorders occur in type A disease, but not in type B, and this is the only factor differentiating the two. (pediagenosis.com)
Glycogen storage diseases (GSDs) are inherited glycogen metabolic disorders which have various subtypes. (biomedcentral.com)
This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. (medscape.com)

The resulting reduced activity of the enzyme iduronate-2-sulfatase leads to accumulation of glycosaminoglycans that can progressively affect multiple organ systems and impair neurologic development. (cdc.gov)

Depending upon energy needs G-6-PO 4 undergoes either catabolism to form energy or anabolism to form glycogen, the storage form of glucose, in liver and muscles. (oncohemakey.com)

A debranching enzyme is a molecule that helps facilitate the breakdown of glycogen, which serves as a store of glucose in the body, through glucosyltransferase and glucosidase activity. (wikipedia.org)
Glycogen breakdown is highly regulated in the body, especially in the liver, by various hormones including insulin and glucagon, to maintain a homeostatic balance of blood-glucose levels. (wikipedia.org)
The process of breakdown involves four enzymes. (xcode.life)
Glycogen breakdown produces glucose-1-phosphate (via glycogenolysis) and glucose (via glycophagy and debranching enzyme activity). (capsulehealth.one)

the substrate typically catalyzed by the enzyme might accumulate to toxic levels. (newworldencyclopedia.org)
In fucosidosis, there is an absence or near-absence of this enzyme and function, and thus these fucose-containing products accumulate within the body and deposit within various organs, such as the brain 1,2,5 . (radiopaedia.org)

The three main categories of disease include the mitochondrial myopathies, fatty acid oxidation defects (FAODs), and glycogen storage diseases (GSDs). (essayempire.com)
These autosomal recessive diseases are caused, respectively, by defects in the enzymes glucose-6-phosphatase and glucose-6-phosphatase translocase. (pediagenosis.com)
These defects prevent normal gluconeogenesis from glycogen stores. (pediagenosis.com)
Primary immunodeficiency diseases (PIDs) are intrinsic defects of the immune system. (lu.se)

This results in the accumulation of ceramide trihexoside in the cells, which causes health problems. (osmosis.org)

There are three clinical variants, which have been designated types A, B, and C. They are all inherited in an autosomal recessive pattern, with the highest prevalence in people of Ashkenazi Jewish descent. (pediagenosis.com)
Accordingly, opportunities to develop better long-term therapies are greatly needed to ameliorate the symptoms and clinical features of this disease. (hindawi.com)
Biochemical and clinical aspects of glycogen storage diseases. (capsulehealth.one)
Both types of PSSM horses will have similar clinical signs of tying-up. (rutgers.edu)

When cells do not require G-6-PO 4 for energy production it undergoes glycogenesis to be stored as glycogen until required to restore blood glucose levels. (oncohemakey.com)

In normal tissue insulin drives glucose from the blood into muscle and liver cells to be stored as glycogen and later used as energy. (standleeforage.com)
Some medications are associated with insulin resistance including corticosteroids , protease inhibitors (type of HIV medication), [11] and atypical antipsychotics . (wikipedia.org)

Angiotensin-converting-enzyme (ACE) inhibitor: Drug which decreases the function of this particular enzyme. (mysanantoniovet.com)

The disease presents with variable cardiac muscle, skeletal muscle and liver involvement and has different subtypes. (medscape.com)
Ten-week treatment with an adeno-associated virus vector containing the LSP-CB dual promoter in adult GSD IIIa mice significantly increased pullulanase expression and reduced glycogen contents in the liver, heart, and skeletal muscle, accompanied by the reversal of liver fibrosis, improved muscle function, and a significant decrease in plasma biomarkers alanine aminotransferase, aspartate aminotransferase, and creatine kinase. (jci.org)

GSD IIIb is less severe and less common, affecting 15% of patients with the disease. (medscape.com)
The fatal perinatal neuromuscular type is the most severe form of GSD IV, with signs developing before birth. (medlineplus.gov)
Infants with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone (severe hypotonia) and muscle wasting (atrophy). (medlineplus.gov)
The non-progressive hepatic type of GSD IV has many of the same features as the progressive hepatic type, but the liver disease is not as severe. (medlineplus.gov)
The most significant and severe liver dysfunction is observed in GSD types I, III, and IV [ 3 ]. (biomedcentral.com)
This condition can present as a mild condition or as a severe disease (with complications such as gallbladder gangrene, perforation, empyema) which require emergent intervention. (lecturio.com)
Achondrogenesis type II (ACG2) is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. (nih.gov)
Other individuals have a multitude of the most severe symptoms of end-stage liver disease and a limited chance for survival. (medscape.com)

Glycogen deposited in these organs has an abnormal structure. (medscape.com)
Over time, accumulations of these substances can be harmful to many organs of the body. (merckmanuals.com)

The congenital muscular type of GSD IV is usually not evident before birth but develops in early infancy. (medlineplus.gov)
Infants with the congenital muscular type of GSD IV typically survive only a few months. (medlineplus.gov)

This is a finding unique to fucosidosis among lysosomal storage diseases 3-5,7 . (radiopaedia.org)
Lysosomal Storage Diseases, Nervous System" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
This graph shows the total number of publications written about "Lysosomal Storage Diseases, Nervous System" by people in this website by year, and whether "Lysosomal Storage Diseases, Nervous System" was a major or minor topic of these publications. (childrensmercy.org)
Below are the most recent publications written about "Lysosomal Storage Diseases, Nervous System" by people in Profiles. (childrensmercy.org)

Genes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic. (msdmanuals.com)
are enzymes produced by the liver and other types of cells. (medicinenet.com)
Under normal circumstances, these enzymes mostly reside within the cells of the liver. (medicinenet.com)
If the liver is injured or damaged, the liver cells spill these enzymes into the blood, raising the AST and ALT enzyme blood levels and signaling liver disease . (medicinenet.com)
The unique feature of PSSM is that the muscle cells in PSSM horses remove sugar from the blood stream and transported into their muscle at a faster rate, and make more glycogen than normal horses. (standleeforage.com)
No medical therapy has shown to be effective for this rare disease, that is treated only by supportive and symptomatic therapy such as red blood cells transfusions, hydration and rehabilitation. (biomedcentral.com)
Sphingolipidoses occur when people do not have the enzymes needed to break down sphingolipids, which are compounds that protect the cell surface and serve certain functions in the cells. (merckmanuals.com)
Immunity produced when an animal's own immune system reacts to a stimulus e.g., a virus or bacteria, and produces antibodies and cells which will protect it from the disease caused by the bacteria or virus. (mysanantoniovet.com)

When glucosyltransferase and glucosidase are catalyzed by distinct enzymes, "glycogen debranching enzyme" usually refers to the glucosidase enzyme. (wikipedia.org)

The cause of Glycogen Storage Disease is genetic. (xcode.life)
This complex coordination can be disrupted through a genetic defect in an enzyme. (newworldencyclopedia.org)
Horses with Type 1 PSSM can be identified by genetic testing. (standleeforage.com)
At present there is not a specific genetic test for type 2 PSSM and there is not conclusive evidence that it is inherited. (standleeforage.com)
Type II PSSM horses lack this genetic mutation but still experience abnormal sugar storage in the muscle, making it unavailable for use as energy. (rutgers.edu)

GSD type Ib demonstrates normal G6Pase activity in the frozen tissue samples and lowered activity in the fresh specimens. (medscape.com)
Activity of the two enzymes is not always necessarily coupled. (wikipedia.org)
Type 2 diabetes (T2D) is a disease that is largely associated with increased rates of obesity and reduced physical activity [ 1 ]. (hindawi.com)
Glucose rapidly increased DAG content and PKC enzyme activity in microsomes, but not in plasma membranes or other membranes, during a 30-min treatment of rat adipocytes. (jci.org)
Diagnostic criteria and classification of multiple sclerosis subtypes have evolved in recent decades, and, although successive versions have differed in emphasis, all have required dissemination of disease in space (requiring involvement of multiple areas of the CNS) and in time (requiring ongoing disease activity over time). (medscape.com)

In the non-progressive hepatic type, hepatomegaly and liver disease are usually evident in early childhood, but affected individuals typically do not develop cirrhosis. (medlineplus.gov)

Although the glycogen concentration in tissue is usually not increased, the presence of insoluble glycogen can induce foreign-body reactions and lead to cellular injury and organ dysfunction. (medscape.com)
an enzyme defective within a particular organ or tissue, such as the liver , muscle , or brain , might lead to low energy production or prevent transport to the part of the body requiring energy. (newworldencyclopedia.org)
Nervous tissue, the lens, and the liver are areas of massive accumulation. (pediagenosis.com)
New abnormal growth of tissue. (lookformedical.com)
Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. (lookformedical.com)
Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. (lookformedical.com)

The progressive hepatic type is the most common form of GSD IV. (medlineplus.gov)
Children with the progressive hepatic type of GSD IV often die of liver failure in early childhood. (medlineplus.gov)
GSD type VI, also known as Hers disease, belongs to the group of hepatic glycogenoses and represents a heterogenous disease. (medscape.com)
In addition to these hepatic forms, 4 neuromuscular forms of glycogen-storage disease type IV have recently been identified. (medscape.com)
Patients with nonprogressive liver disease usually retain some hepatic function and do not require liver transplantation. (medscape.com)
GSDs of type I, III, IV, VI, and IX show liver involvement and are considered as hepatic types of GSDs. (biomedcentral.com)
Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules. (lookformedical.com)

In 1956, Andersen reported the first patient with progressive hepatosplenomegaly and accumulation of abnormal polysaccharides. (medscape.com)
The classic presentation of glycogen-storage disease type IV (GSD IV), also known as Andersen disease, includes hepatosplenomegaly and failure to thrive during the first year of life, followed by progressive liver cirrhosis with portal hypertension and death, usually by age 5 years. (medscape.com)

Patients with nonprogressive liver disease and later onset have a milder variant of the disease. (medscape.com)
Late onset of a metabolic disease is often triggered by acute metabolic stresses, such as infection, fasting, or consumption of a nutrient for which a metabolic intolerance exists. (newworldencyclopedia.org)
The initial symptoms of this condition are most commonly epileptic seizures, but the disease progresses rapidly with dementia, neuropsychiatric symptoms, and cognitive deterioration and has a fatal outcome within 5-10 years after onset. (ibecbarcelona.eu)
Approximately 15% of patients follow a primary progressive or progressive relapsing course from disease onset, usually characterized by symptoms of progressive myelopathy (gait instability, spasticity, bladder symptoms) and cognitive impairment. (medscape.com)
Fabry disease affects males and females, and it has two forms: classic and nonclassic/later onset. (osmosis.org)
Nonclassic or later-onset Fabry disease doesn't cause the earlier symptoms of pain and gastrointestinal issues in childhood, but some adults develop multiple symptoms as young adults. (osmosis.org)

To date, no curative treatment is available for GSD III, and current symptomatic dietary management does not prevent ongoing disease progression. (jci.org)
In Alzheimer's disease, and other related tauopathies, the pattern of tau deposition follows a stereotypical progression between anatomically connected brain regions. (ibecbarcelona.eu)
The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. (nih.gov)
Therapy primarily centers on hematopoietic stem cell transplantation which can delay disease progression 11 . (radiopaedia.org)

Together with phosphorylases, debranching enzymes mobilize glucose reserves from glycogen deposits in the muscles and liver. (wikipedia.org)

Cell damage was assessed using MTT assays, and the lactate dehydrogenase (LDH) release rate and flow cytometry were used to detect the accumulation of reactive oxygen species (ROS) and mitochondrial membrane potential respectively. (sdbonline.org)

Chronic liver diseases are a crucial global health issue and the cause of approximately 2 million deaths per year worldwide. (bvsalud.org)
Specific medical therapies may be applied to many liver diseases in an effort to diminish symptoms and to prevent or forestall the development of cirrhosis. (medscape.com)
Liver diseases associated with ALCOHOLISM. (lookformedical.com)

Diseases10

Chemicals and Drugs6

Information Science1

Degradation7

Deficiency20

Metabolism15

Muscle glycogen4

Synthase4

Gene19

Poorly branched glycogen2

Pathophysiology1

Deficient6

Phosphorylase9

Molecules10

Tissues9

Increased enzyme activity1

Polyglucosan2

Break down glycogen2

Lipid3

Mutations2

Proteins10

Lysosomes1

Disorder11

Myopathy5

Structurally abnormal1

Pathologic2

Hypoglycemia3

Abnormalities4

Metabolic diseases1

Disorders7

Leads to accumulation1

Form of glucose1

Breakdown4

Accumulate2

Defects4

Results in the accumulation1

Clinical4

Blood-glucose levels1

Insulin2

Particular enzyme1

Skeletal muscle2

Severe8

Organs2

Congenital2

Lysosomal storage4

Cells8

Catalyzed by disti1

Genetic5

Activity5

Hepatomegaly1

Tissue6

Hepatic7

Hepatosplenomegaly2

Onset6

Progression4

Muscles and liver1

Mitochondrial1

Liver diseases3