|
β-mannosidosis
Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide metabolism caused by decreased activity of the enzyme beta-mannosidase. This enzyme is coded for by the gene '' MANBA'', located at 4q22-25. Beta-mannosidosis is inherited in an autosomal recessive manner. Affected individuals appear normal at birth, and can have a variable clinical presentation. Infantile onset forms show severe neurodegeneration, while some children have intellectual disability. Hearing loss and angiokeratomas are common features of the disease. Symptoms and signs The initial affected individual described in 1986 had a complex phenotype, and was later found to have both beta-mannosidosis and Sanfilippo syndrome. People have been described with a wide spectrum of clinical presentations, from infants and children with intellectual disability to adults who present with isolated skin findings ( angiokeratomas). Most cases are identified in the first year of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oligosaccharide
An oligosaccharide (; ) is a carbohydrate, saccharide polymer containing a small number (typically three to ten) of monosaccharides (simple sugars). Oligosaccharides can have many functions including Cell–cell recognition, cell recognition and cell adhesion. They are normally present as glycans: oligosaccharide chains are linked to lipids or to compatible amino acid side chains in proteins, by ''N''- or ''O''-glycoside, glycosidic bonds. ''N''-Linked oligosaccharides are always pentasaccharides attached to asparagine via a beta linkage to the amine nitrogen of the side chain.. Alternately, O-linked glycosylation, ''O''-linked oligosaccharides are generally attached to threonine or serine on the alcohol group of the side chain. Not all natural oligosaccharides occur as components of glycoproteins or glycolipids. Some, such as the raffinose series, occur as storage or transport carbohydrates in plants. Others, such as maltodextrins or cellodextrins, result from the microbial break ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mannose Structure
Mannose is a sugar with the formula , which sometimes is abbreviated Man. It is one of the monomers of the aldohexose series of carbohydrates. It is a C-2 epimer of glucose. Mannose is important in human metabolism, especially in the glycosylation of certain proteins. Several Congenital disorder of glycosylation, congenital disorders of glycosylation are associated with mutations in enzymes involved in mannose metabolism. Mannose is not an essential nutrient; it can be produced in the human body from glucose, or converted into glucose. Mannose provides 2–5 kcal/g. It is partially excreted in the urine. Etymology The root of both "mannose" and "mannitol" is manna, which the Bible describes as the food supplied to the Israelites during their journey in the region of Sinai Peninsula, Sinai. Several trees and shrubs can produce a substance called manna, such as the "manna tree" (''Fraxinus ornus'') from whose secretions mannitol was originally isolated. Structure Mannose comm ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glycoprotein Metabolism Disorders
Glycoproteins are proteins which contain oligosaccharide (sugar) chains covalently attached to amino acid side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known as glycosylation. Secreted extracellular proteins are often glycosylated. In proteins that have segments extending extracellularly, the extracellular segments are also often glycosylated. Glycoproteins are also often important integral membrane proteins, where they play a role in cell–cell interactions. It is important to distinguish endoplasmic reticulum-based glycosylation of the secretory system from reversible cytosolic-nuclear glycosylation. Glycoproteins of the cytosol and nucleus can be modified through the reversible addition of a single GlcNAc residue that is considered reciprocal to phosphorylation and the functions of these are likely to be an additional regulatory mechanism that controls phosphorylation-based signalling. In c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizures
A seizure is a sudden, brief disruption of brain activity caused by abnormal, excessive, or synchronous neuronal firing. Depending on the regions of the brain involved, seizures can lead to changes in movement, sensation, behavior, awareness, or consciousness. Symptoms vary widely. Some seizures involve subtle changes, such as brief lapses in attention or awareness (as seen in absence seizures), while others cause generalized convulsions with loss of consciousness ( tonic–clonic seizures). Most seizures last less than two minutes and are followed by a postictal period of confusion, fatigue, or other symptoms. A seizure lasting longer than five minutes is a medical emergency known as status epilepticus. Seizures are classified as provoked, when triggered by a known cause such as fever, head trauma, or metabolic imbalance, or unprovoked, when no immediate trigger is identified. Recurrent unprovoked seizures define the neurological condition epilepsy. Clinical features Seizur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alpha-mannosidosis
Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967.''Malm D, Nilssen O (2008). "Alpha-mannosidosis". Orphanet J Rare Dis. 3 (1): 21. PubMed Central, PMC 2515294 . PubMed Identifier, PMID 18651971'' In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.''Alpha-Mannosidosis Mutation Database. Tromsø University. Available at'' Consequently, if both parents are carriers, there will be a 25% chance with each pregnancy that the defective gene from both parents will be inherited, and the child will develop the disease. There is a two in three chance that unaffected siblings will be carriers (Figure 1). In livestock alpha-mannosidosis is caused by chronic poisoning with swainsonine from locoweed. Symptoms and signs Alpha-mannosidosis is a lifelong multi-systemic progressive ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Histochemistry
Immunohistochemistry is a form of immunostaining. It involves the process of selectively identifying antigens in cells and tissue, by exploiting the principle of antibodies binding specifically to antigens in biological tissues. Albert Hewett Coons, Ernest Berliner, Norman Jones and Hugh J Creech was the first to develop immunofluorescence in 1941. This led to the later development of immunohistochemistry. Immunohistochemical staining is widely used in the diagnosis of abnormal cells such as those found in cancerous tumors. In some cancer cells certain tumor antigens are expressed which make it possible to detect. Immunohistochemistry is also widely used in basic research, to understand the distribution and localization of biomarkers and differentially expressed proteins in different parts of a biological tissue. Sample preparation Immunohistochemistry can be performed on tissue that has been fixed and embedded in paraffin, but also cryopreservated (frozen) tissue. Based on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lectin
Lectins are carbohydrate-binding proteins that are highly specific for sugar Moiety (chemistry), groups that are part of other molecules, so cause agglutination (biology), agglutination of particular cells or precipitation of glycoconjugates and polysaccharides. Lectins have a role in recognition at the cellular and molecular level and play numerous roles in biological recognition phenomena involving cells, carbohydrates, and proteins. Lectins also mediate attachment and binding of bacteria, viruses, and fungi to their intended targets. Lectins are found in many foods. Some foods, such as beans and grains, need to be cooked, fermented or sprouted to reduce lectin content. Some lectins are beneficial, such as CLEC11A, which promotes bone growth, while others may be powerful toxins such as ricin. Lectins may be disabled by specific monosaccharides, mono- and oligosaccharides, which bind to ingested lectins from grains, legumes, nightshade plants, and dairy; binding can prevent ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Differential Diagnosis
In healthcare, a differential diagnosis (DDx) is a method of analysis that distinguishes a particular disease or condition from others that present with similar clinical features. Differential diagnostic procedures are used by clinicians to diagnose the specific disease in a patient, or, at least, to consider any imminently life-threatening conditions. Often, each possible disease is called a differential diagnosis (e.g., acute bronchitis could be a differential diagnosis in the evaluation of a cough, even if the final diagnosis is common cold). More generally, a differential diagnostic procedure is a systematic diagnostic method used to identify the presence of a disease entity where multiple alternatives are possible. This method may employ algorithms, akin to the process of elimination, or at least a process of obtaining information that decreases the "probabilities" of candidate conditions to negligible levels, by using evidence such as symptoms, patient history, and medi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oligosaccharides
An oligosaccharide (; ) is a saccharide polymer containing a small number (typically three to ten) of monosaccharides (simple sugars). Oligosaccharides can have many functions including cell recognition and cell adhesion. They are normally present as glycans: oligosaccharide chains are linked to lipids or to compatible amino acid side chains in proteins, by ''N''- or ''O''- glycosidic bonds. ''N''-Linked oligosaccharides are always pentasaccharides attached to asparagine via a beta linkage to the amine nitrogen of the side chain.. Alternately, ''O''-linked oligosaccharides are generally attached to threonine or serine on the alcohol group of the side chain. Not all natural oligosaccharides occur as components of glycoproteins or glycolipids. Some, such as the raffinose series, occur as storage or transport carbohydrates in plants. Others, such as maltodextrins or cellodextrins, result from the microbial breakdown of larger polysaccharides such as starch or cellulose. Gly ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Urine
Urine is a liquid by-product of metabolism in humans and many other animals. In placental mammals, urine flows from the Kidney (vertebrates), kidneys through the ureters to the urinary bladder and exits the urethra through the penile meatus (males) or urethral meatus of the vulva (females) during urination. In other vertebrates, urine is excreted through the cloaca. Urine contains water-soluble by-products of Cell (biology), cellular metabolism that are rich in nitrogen and must be clearance (medicine), cleared from the Circulatory system, bloodstream, such as urea, uric acid and creatinine. A urinalysis can detect nitrogenous wastes of the mammalian body. Urine plays an important role in the earth's nitrogen cycle. In balanced ecosystems, urine fertilizes the soil and thus helps plants to grow. Therefore, Reuse of excreta, urine can be used as a fertilizer. Some animals use it to territory (animal)#Scent marking, mark their territories. Historically, aged or fermented urine (kn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glycoproteins
Glycoproteins are proteins which contain oligosaccharide (sugar) chains covalently attached to amino acid side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known as glycosylation. Secreted extracellular proteins are often glycosylated. In proteins that have segments extending extracellularly, the extracellular segments are also often glycosylated. Glycoproteins are also often important integral membrane proteins, where they play a role in cell–cell interactions. It is important to distinguish endoplasmic reticulum-based glycosylation of the secretory system from reversible cytosolic-nuclear glycosylation. Glycoproteins of the cytosol and nucleus can be modified through the reversible addition of a single GlcNAc residue that is considered reciprocal to phosphorylation and the functions of these are likely to be an additional regulatory mechanism that controls phosphorylation-based signalling. In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
