Congenital Disorders of Glycosylation
Carbohydrate Metabolism, Inborn Errors
Protein Modification, Translational
Metabolism, Inborn Errors
Molecular Sequence Data
Leukocyte-Adhesion Deficiency Syndrome
Amino Acid Sequence
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Adaptor Proteins, Vesicular Transport
Genetic Diseases, Inborn
Protein Processing, Post-Translational
Diagnostic and Statistical Manual of Mental Disorders
Chromatography, High Pressure Liquid
Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase
Depressive Disorder, Major
Attention Deficit Disorder with Hyperactivity
Disease Models, Animal
Sequence Analysis, DNA
Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients. (1/113)The aim of the present study was to explore how mannose enters fibroblasts derived from a panel of children suffering from different subtypes of type I carbohydrate deficient glycoprotein syndrome: seven carbohydrate deficient glycoprotein syndrome subtype Ia (phosphomannomutase deficiency), two carbohydrate deficient glycoprotein syndrome subtype Ib (phosphomannose isomerase deficiency) and two carbohydrate deficient glycoprotein syndrome subtype Ix (not identified deficiency). We showed that a specific mannose transport system exists in all the cells tested but has different characteristics with respect to carbohydrate deficient glycoprotein syndrome subtypes. Subtype Ia fibroblasts presented a mannose uptake equivalent or higher (maximum 1.6-fold) than control cells with a D-[2-3H]-mannose incorporation in nascent N-glycoproteins decreased up to 7-fold. Compared to control cells, the mannose uptake was greatly stimulated in subtype Ib (4.0-fold), due to lower Kuptake and higher Vmax values. Subtype Ib cells showed an increased incorporation of D-[2-3H]-mannose into nascent N-glycoproteins. Subtype Ix fibroblasts presented an intermediary status with mannose uptake equivalent to the control but with an increased incorporation of D-[2-3H]-mannose in nascent N-glycoproteins. All together, our results demonstrate quantitative and/or qualitative modifications in mannose transport of all carbohydrate deficient glycoprotein syndrome fibroblasts in comparison to control cells, with a relative homogeneity within a considered subtype of carbohydrate deficient glycoprotein syndrome. These results are consistent with the possible use of mannose as a therapeutic agent in carbohydrate deficient glycoprotein syndrome Ib and Ix. (+info)
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. (2/113)Carbohydrate-deficient glycoprotein syndrome (CDGS) represents a class of genetic diseases characterized by abnormal N-linked glycosylation. CDGS patients show a large number of glycoprotein abnormalities resulting in dysmorphy, encephalopathy, and other organ disorders. The majority of CDGSs described to date are related to an impaired biosynthesis of dolichyl pyrophosphate-linked Glc3Man9GlcNAc2 in the endoplasmic reticulum. Recently, we identified in four related patients a novel type of CDGS characterized by an accumulation of dolichyl pyrophosphate-linked Man9GlcNAc2. Elaborating on the analogy of this finding with the phenotype of alg5 and alg6 Saccharomyces cerevisiae strains, we have cloned and analyzed the human orthologs to the ALG5 dolichyl phosphate glucosyltransferase and ALG6 dolichyl pyrophosphate Man9GlcNAc2 alpha1,3-glucosyltransferase in four novel CDGS patients. Although ALG5 was not altered in the patients, a C-->T transition was detected in ALG6 cDNA of all four CDGS patients. The mutation cosegregated with the disease in a Mendelian recessive manner. Expression of the human ALG5 and ALG6 cDNA could partially complement the respective S. cerevisiae alg5 and alg6 deficiency. By contrast, the mutant ALG6 cDNA of CDGS patients failed to revert the hypoglycosylation observed in alg6 yeasts, thereby proving a functional relationship between the alanine to valine substitution introduced by the C-->T transition and the CDGS phenotype. The mutation in the ALG6 alpha1,3-glucosyltransferase gene defines an additional type of CDGS, which we propose to refer to as CDGS type-Ic. (+info)
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. (3/113)Seven mutant forms of human phosphomannomutase 2 were produced in Escherichia coli and purified. These mutants had a Vmax of 0.2-50% of the wild enzyme and were unstable. The least active protein (R141H) bears a very frequent mutation, which has never been found in the homozygous state whereas the second least active protein (D188G) corresponds to a mutation associated with a particularly severe phenotype. We conclude that total lack of phosphomannomutase 2 is incompatible with life. Another conclusion is that the elevated residual phosphomannomutase activity found in fibroblasts of some patients is contributed by their mutated phosphomannomutase 2. (+info)
Microheterogeneity of serum glycoproteins in patients with chronic alcohol abuse compared with carbohydrate-deficient glycoprotein syndrome type I. (4/113)BACKGROUND: Chronic alcohol abuse alters the normal N-glycosylation of transferrin, producing the carbohydrate-deficient transferrin isoforms. This alteration could be similar to that present in patients with carbohydrate-deficient glycoprotein syndrome type 1 (CDG1). We thus compared the alterations of N-glycans present in patients with alcoholism and patients with CDG1. METHODS: The N-glycans of serum glycoproteins were compared in sera of patients with alcoholism, patients with CDG1, and controls by two-dimensional electrophoresis, neuraminidase, peptide:N-glycosidase F, and endoglycosidase F2 treatments. A specific antibody directed against the amino acid sequence surrounding the N-432 N-glycosylation site of transferrin was prepared (SZ-350 antibody). RESULTS: In patients with alcoholism, the abnormal transferrin and alpha(1)-antitrypsin isoforms were devoid of a variable number of entire N-glycan moieties and were identical with those present in CDG1. In the serum of patients with alcoholism, this finding was less pronounced than in CDG1. In contrast to CDG1, there was no decrease in clusterin or serum amyloid P in patients with alcoholism. The SZ-350 antibody recognized only transferrin isoforms with one or no N-glycan moieties. CONCLUSION: Antibodies directed against specific N-glycosylation sites of glycoproteins could be useful for developing more specific immunochemical tests for the diagnosis of chronic alcohol abuse. (+info)
A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi. (5/113)The fucosylation of glycoproteins was found to be deficient in a patient with a clinical phenotype resembling that of leukocyte adhesion deficiency type II (LAD II). While in LAD II hypofucosylation of glycoconjugates is secondary to an impaired synthesis of GDP-fucose due to a deficiency of the GDP-D-mannose-4, 6-dehydratase, synthesis of GDP-fucose was normal in our patient (Korner, C., Linnebank, M., Koch, H., Harms, E., von Figura, K., and Marquardt, T. (1999) J. Leukoc. Biol., in press). Import of GDP-fucose into Golgi-enriched vesicles was composed of a saturable, high affinity and a nonsaturable component. In our patient the saturable high affinity import of GDP-fucose was deficient, while import of UDP-galactose and the activity of GDPase, which generates the nucleoside phosphate required for antiport of GDP-fucose, were normal. Addition of L-fucose to the medium of fibroblasts restored the fucosylation of glycoproteins. We propose that this new form of carbohydrate-deficient glycoprotein syndrome is caused by impaired import of GDP-fucose into the Golgi. (+info)
Determination of carbohydrate-deficient transferrin separated by lectin affinity chromatography for detecting chronic alcohol abuse. (6/113)Carbohydrate-deficient transferrin (CDT) has been established as a valuable biological marker for detecting chronic alcohol abuse. To improve the diagnostic efficiency, we studied new CDT determination procedures involving the use of lectin affinity chromatography with Allomyrina dichotoma agglutinin (allo A) and Trichosanthes japonica agglutinin I (TJA-I) to isolate the CDT isoforms CDT-allo A and CDT-TJA, respectively. These procedures, based on detection of the CDT-allo A and CDT-TJA isoforms in sera, showed high sensitivity (100% and 98%, respectively) and high specificity (93% and 85%, respectively). These results demonstrate that the new procedures involving the use of lectin affinity chromatography are more useful for isolating markers in the CDT test than the conventional charge-based separation method. (+info)
beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain. (7/113)As carbohydrate-deficient glycoprotein syndromes (CDGS) are multisystemic disorders with impaired central nervous function in nearly all cases, we tested isoforms of beta-trace protein (beta TP), a 'brain-type' glycosylated protein in cerebrospinal fluid (CSF) of nine patients with the characteristic CDGS type I pattern of serum transferrin. Whereas the serum transferrin pattern did not discriminate between the various subtypes of CDGS type I (CDGS type Ia, type Ic, and patients with unknown defect), beta TP isoforms of CDGS type Ia patients differed from that of the other CDGS type I patients. The percentage of abnormal beta TP isoforms correlated with the severity of the neurological symptoms. Furthermore, two patients are described, who illustrate that abnormal protein N-glycosylation can occur restricted to either the 'peripheral' serum or the central nervous system compartment. This is the first report presenting evidence for an N-glycosylation defect restricted to the brain. Testing beta TP isoforms is a useful tool to detect protein N-glycosylation disorders in the central nervous system. (+info)
Glycosylation defects corrected by the changes in GDPmannose level. (8/113)GDPMan is a key substrate in glycoprotein formation. This is especially true for lower eukaryotes where, in addition to the involvement in N-glycan biosynthesis and GPI-anchor formation, GDPMan takes part in the process which is unique for yeast and fungi i.e. O-mannosylation. Several lines of evidence have been presented that the level of GDPMan affects the process occurring in the Golgi compartment i.e. the elongation of outer mannose chain of glycoproteins in Saccharomyces cerevisiae. Results from our laboratory indicate that the availability of GDPMan affects also the early steps of glycoprotein formation ascribed to the endoplasmic reticulum, i.e. assembly of the dolichol-linked oligosaccharide as well as mannosyl-phosphodolichol (MPD) formation. The biochemical basis of carbohydrate deficient glycoprotein syndrome, a severe neurological disorder related to the GDPMan deficiency, is also discussed. (+info)
Congenital Disorders of Glycosylation (CDG) are a group of rare genetic disorders that affect the way that sugars (called glycans) are attached to proteins in the body. These disorders can affect various organs and systems in the body, including the brain, liver, and nervous system. CDGs are caused by mutations in genes that are involved in the process of glycosylation, which is the addition of sugars to proteins. These mutations can result in the production of abnormal proteins that are not properly glycosylated, leading to a wide range of symptoms and complications. The symptoms of CDGs can vary widely depending on the specific type of disorder and the severity of the condition. Some common symptoms include developmental delays, intellectual disability, seizures, hypotonia (low muscle tone), and problems with feeding and growth. CDGs are typically diagnosed through a combination of clinical evaluation, genetic testing, and laboratory tests that measure the levels of specific sugars in the body. Treatment for CDGs may involve a range of interventions, including dietary modifications, medications, and supportive therapies to manage symptoms and complications.
Carbohydrate metabolism, inborn errors refer to a group of genetic disorders that affect the body's ability to properly metabolize carbohydrates. Carbohydrates are a major source of energy for the body, and they are broken down into glucose, which is then used to fuel various bodily functions. Inborn errors of carbohydrate metabolism occur when there is a deficiency or abnormality in one of the enzymes involved in the breakdown or utilization of carbohydrates. This can lead to a buildup of toxic substances in the body, which can cause a range of symptoms and health problems. Inborn errors of carbohydrate metabolism are typically diagnosed through blood tests and genetic testing, and treatment may involve dietary changes, medications, and in some cases, enzyme replacement therapy.
Mannosyltransferases are a group of enzymes that transfer mannose sugar molecules from a donor molecule to a receptor molecule. These enzymes play a crucial role in the biosynthesis of complex carbohydrates, such as glycoproteins and glycolipids, which are important components of cell membranes and play a variety of functions in the body. In the medical field, mannosyltransferases are of particular interest because they are involved in the formation of glycans, which are often altered in diseases such as cancer, diabetes, and infectious diseases. For example, changes in the expression or activity of specific mannosyltransferases have been linked to the development of certain types of cancer, and targeting these enzymes has been proposed as a potential therapeutic strategy. Mannosyltransferases are also important in the immune system, where they play a role in the recognition and clearance of pathogens by immune cells. In addition, they are involved in the regulation of cell growth and differentiation, and in the maintenance of tissue homeostasis. Overall, mannosyltransferases are a diverse group of enzymes that play important roles in many biological processes, and their study is of great interest in the medical field.
Mannose-6-Phosphate Isomerase (MPI) is an enzyme that plays a crucial role in the metabolism of carbohydrates in the human body. It is responsible for converting mannose-6-phosphate, a sugar molecule, into fructose-6-phosphate, another sugar molecule. This conversion is an important step in the glycolytic pathway, which is the process by which cells convert glucose into energy. MPI is encoded by the MPI gene, which is located on chromosome 12. Mutations in the MPI gene can lead to a rare genetic disorder called Sanfilippo syndrome type B, also known as MPS IIIB. This disorder is characterized by progressive neurological damage, cognitive decline, and physical disabilities. In addition to its role in metabolism, MPI has also been implicated in various other biological processes, including the regulation of immune responses and the development of cancer.
Muscle hypertonia refers to an abnormally increased muscle tone or stiffness, which can result in difficulty with movement and range of motion. It can be caused by a variety of factors, including neurological disorders, muscle disorders, and certain medications. In some cases, muscle hypertonia may be a symptom of a more serious underlying condition, such as a stroke or multiple sclerosis. Treatment for muscle hypertonia depends on the underlying cause and may include physical therapy, medication, or surgery.
Polysaccharides are complex carbohydrates that are composed of long chains of monosaccharide units linked together by glycosidic bonds. They are found in many different types of biological materials, including plant cell walls, animal tissues, and microorganisms. In the medical field, polysaccharides are often used as drugs or therapeutic agents, due to their ability to modulate immune responses, promote wound healing, and provide other beneficial effects. Some examples of polysaccharides that are used in medicine include hyaluronic acid, chondroitin sulfate, heparin, and dextran.
Dolichol is a lipid molecule that is involved in the biosynthesis of glycosphingolipids and glycoproteins in the endoplasmic reticulum (ER) of cells. It is a long-chain alcohol that is attached to a sugar molecule called glucoseceramide, which is then further modified to form various types of glycosphingolipids and glycoproteins. Dolichol plays a critical role in the transport of these molecules from the ER to the Golgi apparatus, where they are further modified and sorted for delivery to their final destinations within the cell or to the cell surface. In the absence of dolichol, the biosynthesis of glycosphingolipids and glycoproteins is disrupted, leading to a variety of cellular defects and diseases. Dolichol is also involved in the regulation of protein folding and quality control in the ER, and it has been implicated in the pathogenesis of several human diseases, including Niemann-Pick disease type C, a rare genetic disorder that affects the metabolism of cholesterol and other lipids.
Transferrin is a plasma protein that plays a crucial role in the transport of iron in the bloodstream. It is synthesized in the liver and transported to the bone marrow, where it helps to regulate the production of red blood cells. Transferrin also plays a role in the immune system by binding to and transporting iron to immune cells, where it is used to produce antibodies. In the medical field, low levels of transferrin can be a sign of iron deficiency anemia, while high levels may indicate an excess of iron in the body.
Inborn errors of metabolism refer to a group of genetic disorders that affect the body's ability to process nutrients and other substances. These disorders can affect various metabolic pathways, leading to a wide range of symptoms and health problems. Metabolism is the process by which the body breaks down and uses nutrients to produce energy and maintain bodily functions. Inborn errors of metabolism occur when there is a defect in one or more of the enzymes or other molecules involved in these metabolic processes. This can lead to the accumulation of toxic substances in the body, which can cause damage to organs and tissues and lead to a variety of health problems. Inborn errors of metabolism can be inherited in an autosomal recessive, autosomal dominant, or X-linked pattern. Some of the most common inborn errors of metabolism include phenylketonuria (PKU), maple syrup urine disease (MSUD), and galactosemia. These disorders can be diagnosed through genetic testing and treated with a combination of dietary restrictions and medications to manage symptoms and prevent complications.
Hirschsprung disease, also known as congenital aganglionic megacolon, is a rare disorder that affects the development of the nervous system in the intestines. It occurs when the nerve cells (ganglion cells) that control the muscles in the walls of the intestines fail to develop properly, leading to a blockage of the digestive system. The disease is typically diagnosed in infancy or early childhood, and symptoms can include constipation, abdominal pain, vomiting, and failure to thrive. In severe cases, the blockage can lead to malnutrition, dehydration, and even death. Treatment for Hirschsprung disease typically involves surgery to remove the affected section of the intestine and reconnect the healthy parts. In some cases, medications or other therapies may also be used to manage symptoms.
Oligosaccharides are short chains of sugar molecules that are composed of three to ten monosaccharide units. They are also known as "oligos" or "short-chain carbohydrates." In the medical field, oligosaccharides have been studied for their potential health benefits, including their ability to improve gut health, boost the immune system, and reduce the risk of chronic diseases such as diabetes and obesity. Some specific types of oligosaccharides that have been studied in the medical field include: 1. Prebiotics: These are oligosaccharides that selectively stimulate the growth of beneficial bacteria in the gut, such as Bifidobacteria and Lactobacilli. 2. Galactooligosaccharides (GOS): These are oligosaccharides that are found naturally in breast milk and have been shown to improve gut health and immune function in infants. 3. Fructooligosaccharides (FOS): These are oligosaccharides that are found in many fruits and vegetables and have been shown to improve gut health and reduce the risk of chronic diseases. Overall, oligosaccharides are an important class of carbohydrates that have potential health benefits and are being studied in the medical field for their potential therapeutic applications.
Fucose is a monosaccharide that is commonly found in the cell walls of bacteria, fungi, and plants. In the medical field, fucose is often used as a diagnostic tool to identify certain types of bacteria and fungi. It is also used in the production of certain types of vaccines and antibiotics. Additionally, fucose has been shown to have potential therapeutic applications, such as in the treatment of cancer and inflammatory diseases.
Multiple abnormalities in the medical field refer to the presence of two or more abnormal conditions or findings in a person's body or health status. These abnormalities can be related to various organs or systems in the body and can be caused by a variety of factors, including genetic disorders, infections, injuries, or chronic diseases. Examples of multiple abnormalities that may be seen in a medical setting include multiple birth defects, multiple tumors, multiple infections, or multiple chronic conditions such as diabetes, hypertension, and heart disease. The presence of multiple abnormalities can complicate diagnosis and treatment, as it may require a more comprehensive approach to identify the underlying causes and develop effective management plans.
Mannose is a simple sugar that is a monosaccharide with the chemical formula C6H12O6. It is a component of many complex carbohydrates, including glycans and glycoproteins, which are found in the human body and play important roles in various biological processes. In the medical field, mannose is used as a diagnostic tool to detect certain diseases and conditions. For example, it is used in the diagnosis of certain types of cancer, such as ovarian cancer, by detecting changes in the levels of mannose in the blood or urine. Mannose is also used in the treatment of certain conditions, such as diabetes, by helping to regulate blood sugar levels. It is also used in the development of vaccines and as a component of some dietary supplements. In addition, mannose has been shown to have anti-inflammatory and immune-boosting properties, which may make it useful in the treatment of a variety of conditions, including infections, autoimmune diseases, and allergies.
Leukocyte-adhesion deficiency syndrome (LAD) is a rare genetic disorder that affects the immune system. It is characterized by a deficiency in the ability of white blood cells (leukocytes) to adhere to the walls of blood vessels and migrate to sites of infection or injury. This results in an impaired immune response, making individuals with LAD more susceptible to infections and delayed wound healing. There are three types of LAD, each caused by a different genetic mutation: LAD type 1, LAD type 2, and LAD type 3. LAD type 1 is the most severe form and is usually diagnosed in infancy, while LAD type 2 and LAD type 3 are milder and may not be diagnosed until later in life. Treatment for LAD typically involves antibiotics to treat infections and supportive care to manage symptoms.
Glycoproteins are a type of protein that contains one or more carbohydrate chains covalently attached to the protein molecule. These carbohydrate chains are made up of sugars and are often referred to as glycans. Glycoproteins play important roles in many biological processes, including cell signaling, cell adhesion, and immune response. They are found in many different types of cells and tissues throughout the body, and are often used as markers for various diseases and conditions. In the medical field, glycoproteins are often studied as potential targets for the development of new drugs and therapies.
In the medical field, an amino acid sequence refers to the linear order of amino acids in a protein molecule. Proteins are made up of chains of amino acids, and the specific sequence of these amino acids determines the protein's structure and function. The amino acid sequence is determined by the genetic code, which is a set of rules that specifies how the sequence of nucleotides in DNA is translated into the sequence of amino acids in a protein. Each amino acid is represented by a three-letter code, and the sequence of these codes is the amino acid sequence of the protein. The amino acid sequence is important because it determines the protein's three-dimensional structure, which in turn determines its function. Small changes in the amino acid sequence can have significant effects on the protein's structure and function, and this can lead to diseases or disorders. For example, mutations in the amino acid sequence of a protein involved in blood clotting can lead to bleeding disorders.
In the medical field, a carbohydrate sequence refers to a linear or branched chain of monosaccharide units that are linked together by glycosidic bonds. These sequences are found in various biological molecules such as glycoproteins, glycolipids, and polysaccharides. Carbohydrate sequences play important roles in many biological processes, including cell recognition, cell signaling, and immune responses. They can also be used as diagnostic markers for various diseases, such as cancer and infectious diseases. The structure and composition of carbohydrate sequences can vary widely, depending on the type of monosaccharide units and the arrangement of the glycosidic bonds. Understanding the structure and function of carbohydrate sequences is important for developing new drugs and therapies for various diseases.
In the medical field, a syndrome is a set of symptoms and signs that occur together and suggest the presence of a particular disease or condition. A syndrome is often defined by a specific pattern of symptoms that are not caused by a single underlying disease, but rather by a combination of factors, such as genetic, environmental, or hormonal. For example, Down syndrome is a genetic disorder that is characterized by a specific set of physical and intellectual characteristics, such as a flattened facial profile, short stature, and intellectual disability. Similarly, the flu syndrome is a set of symptoms that occur together, such as fever, cough, sore throat, and body aches, that suggest the presence of an influenza virus infection. Diagnosing a syndrome involves identifying the specific set of symptoms and signs that are present, as well as ruling out other possible causes of those symptoms. Once a syndrome is diagnosed, it can help guide treatment and management of the underlying condition.
Bipolar disorder, also known as manic-depressive illness, is a mental health condition characterized by extreme mood swings that include episodes of mania or hypomania (abnormally elevated or irritable mood) and depression. These mood swings can be severe and can significantly impact a person's daily life, relationships, and ability to function. Bipolar disorder is typically diagnosed based on a person's symptoms, medical history, and a physical examination. There are several different types of bipolar disorder, including bipolar I disorder, bipolar II disorder, cyclothymic disorder, and other specified bipolar and related disorders. Treatment for bipolar disorder typically involves a combination of medication and therapy. Medications used to treat bipolar disorder may include mood stabilizers, antipsychotics, and antidepressants. Therapy may include cognitive-behavioral therapy, interpersonal and social rhythm therapy, and family-focused therapy. It is important to note that bipolar disorder is a serious medical condition that requires ongoing treatment and management. With proper treatment, many people with bipolar disorder are able to manage their symptoms and lead fulfilling lives.
Tunicamycin is an antibiotic medication that is used to treat certain types of infections caused by bacteria. It is a type of antibiotic called a macrolide, which works by stopping the growth of bacteria. Tunicamycin is typically used to treat infections of the respiratory tract, such as pneumonia and bronchitis, as well as infections of the skin and soft tissues. It is usually given by injection into a vein, although it can also be given by mouth in some cases. Tunicamycin can cause side effects, including nausea, vomiting, and diarrhea, and it may interact with other medications. It is important to follow the instructions of your healthcare provider when taking tunicamycin.
Glucosyltransferases are a group of enzymes that transfer glucose molecules from a donor substrate to an acceptor substrate. These enzymes play important roles in various biological processes, including the synthesis of complex carbohydrates, glycosylation of proteins and lipids, and the metabolism of drugs and toxins. In the medical field, glucosyltransferases are often studied in the context of diseases such as cancer, diabetes, and inflammatory disorders. For example, certain types of cancer cells overexpress specific glucosyltransferases, which can contribute to the growth and spread of the tumor. Similarly, changes in the activity of glucosyltransferases have been implicated in the development of diabetes and other metabolic disorders. In addition, glucosyltransferases are also important targets for drug development. For example, inhibitors of specific glucosyltransferases have been shown to have anti-cancer and anti-inflammatory effects, and are being investigated as potential therapeutic agents.
Caroli disease is a rare congenital disorder that affects the bile ducts, which are the tubes that carry bile from the liver to the small intestine. In Caroli disease, the bile ducts are abnormally dilated, or widened, and can become cystic, or filled with fluid. This can lead to a variety of symptoms, including abdominal pain, jaundice, and liver dysfunction. Caroli disease is typically diagnosed through imaging tests such as ultrasound, CT scan, or MRI. Treatment options for Caroli disease may include medications to manage symptoms, endoscopic procedures to remove cysts or blockages, or surgery to repair or replace damaged bile ducts. In some cases, liver transplantation may be necessary if the disease causes significant liver damage.
Adaptor proteins, vesicular transport are a class of proteins that play a crucial role in the process of vesicular transport in cells. These proteins function as molecular adaptors that link cargo molecules to the vesicles that transport them within the cell. In vesicular transport, cargo molecules are packaged into vesicles and transported to their destination within the cell or to other cells. Adaptor proteins help to recognize and bind to specific cargo molecules, and then link them to the vesicles that will transport them. This process is essential for the proper functioning of cells, as it allows for the transport of a wide variety of molecules, including proteins, lipids, and carbohydrates. Adaptor proteins, vesicular transport are involved in a number of different types of vesicular transport, including endocytosis, exocytosis, and intracellular trafficking. They are also involved in the regulation of a number of cellular processes, including signal transduction and the regulation of gene expression. In the medical field, adaptor proteins, vesicular transport are the subject of ongoing research, as they play a critical role in many cellular processes and are involved in a number of diseases and disorders. For example, defects in adaptor proteins have been implicated in a number of neurological disorders, including Alzheimer's disease and Parkinson's disease. Additionally, alterations in the expression or function of adaptor proteins have been linked to a number of cancers, including breast cancer and prostate cancer.
In the medical field, congenital abnormalities refer to birth defects or anomalies that occur during fetal development and are present at birth. These abnormalities can affect any part of the body, including the heart, brain, spine, limbs, and organs. Congenital abnormalities can be caused by a variety of factors, including genetic mutations, environmental factors, infections during pregnancy, and exposure to certain medications or substances. Some congenital abnormalities may be inherited from parents, while others may occur spontaneously. The severity of congenital abnormalities can vary widely, ranging from minor physical deformities to life-threatening conditions that require immediate medical attention. Treatment options for congenital abnormalities depend on the specific condition and may include surgery, medication, therapy, or other interventions. Overall, congenital abnormalities are a significant health concern, and early detection and intervention can help improve outcomes for affected individuals.
Inborn genetic diseases, also known as genetic disorders or hereditary diseases, are conditions that are caused by mutations or variations in an individual's DNA. These mutations can be inherited from one or both parents and can affect the normal functioning of the body's cells, tissues, and organs. Inborn genetic diseases can be classified into several categories, including single-gene disorders, chromosomal disorders, and multifactorial disorders. Single-gene disorders are caused by mutations in a single gene, while chromosomal disorders involve changes in the number or structure of chromosomes. Multifactorial disorders are caused by a combination of genetic and environmental factors. Examples of inborn genetic diseases include cystic fibrosis, sickle cell anemia, Huntington's disease, Down syndrome, and Turner syndrome. These diseases can have a wide range of symptoms and severity, and can affect various parts of the body, including the heart, lungs, brain, and skeletal system. Diagnosis of inborn genetic diseases typically involves a combination of medical history, physical examination, and genetic testing. Treatment options may include medications, surgery, and supportive care, depending on the specific disease and its severity.
In the medical field, mental disorders are conditions that affect a person's thoughts, feelings, and behaviors, causing significant distress or impairment in daily functioning. Mental disorders are diagnosed based on a set of criteria outlined in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), which is published by the American Psychiatric Association. The DSM-5 categorizes mental disorders into several broad categories, including: 1. Anxiety disorders: conditions characterized by excessive fear or worry, such as generalized anxiety disorder, panic disorder, and social anxiety disorder. 2. Mood disorders: conditions characterized by significant changes in mood, such as major depressive disorder, bipolar disorder, and dysthymia. 3. Schizophrenia spectrum and other psychotic disorders: conditions characterized by delusions, hallucinations, disorganized thinking, and abnormal behavior, such as schizophrenia, schizoaffective disorder, and delusional disorder. 4. Neurodevelopmental disorders: conditions that begin in childhood and affect cognitive and social development, such as autism spectrum disorder and attention-deficit/hyperactivity disorder (ADHD). 5. Personality disorders: conditions characterized by enduring patterns of thoughts, feelings, and behaviors that deviate from societal norms and cause significant distress or impairment, such as borderline personality disorder, narcissistic personality disorder, and antisocial personality disorder. 6. Substance-related and addictive disorders: conditions characterized by the use of substances or behaviors that cause significant impairment in daily functioning, such as alcohol use disorder, opioid use disorder, and gambling disorder. 7. Eating disorders: conditions characterized by abnormal eating behaviors that cause significant distress or impairment, such as anorexia nervosa, bulimia nervosa, and binge eating disorder. Mental disorders can be caused by a combination of genetic, environmental, and psychological factors, and they can have a significant impact on a person's quality of life. Treatment for mental disorders typically involves a combination of medication, therapy, and lifestyle changes.
Anxiety disorders are a group of mental health conditions characterized by excessive and persistent feelings of worry, fear, and unease. These disorders can interfere with a person's daily life, relationships, and ability to function normally. Anxiety disorders can be classified into several categories, including generalized anxiety disorder, panic disorder, social anxiety disorder, specific phobia, and obsessive-compulsive disorder (OCD). Treatment for anxiety disorders typically involves a combination of medication and therapy, such as cognitive-behavioral therapy (CBT).
Membrane proteins are proteins that are embedded within the lipid bilayer of a cell membrane. They play a crucial role in regulating the movement of substances across the membrane, as well as in cell signaling and communication. There are several types of membrane proteins, including integral membrane proteins, which span the entire membrane, and peripheral membrane proteins, which are only in contact with one or both sides of the membrane. Membrane proteins can be classified based on their function, such as transporters, receptors, channels, and enzymes. They are important for many physiological processes, including nutrient uptake, waste elimination, and cell growth and division.
Mood disorders are a group of mental health conditions characterized by significant disturbances in mood, emotions, and behavior. These disorders are typically classified into two main categories: depressive disorders and bipolar disorders. Depressive disorders include major depressive disorder (MDD), persistent depressive disorder (PDD), and dysthymia. These disorders are characterized by persistent feelings of sadness, hopelessness, and loss of interest in activities that were once enjoyable. Symptoms may also include changes in appetite and sleep patterns, fatigue, and difficulty concentrating. Bipolar disorders, on the other hand, are characterized by extreme mood swings that alternate between periods of mania or hypomania (elevated or irritable mood, increased energy, and decreased need for sleep) and periods of depression. The most common bipolar disorder is bipolar I disorder, which is characterized by at least one manic episode, while bipolar II disorder is characterized by at least one hypomanic episode and one major depressive episode. Other mood disorders include seasonal affective disorder (SAD), which is a type of depression that occurs during the winter months, and premenstrual dysphoric disorder (PMDD), which is a severe form of premenstrual syndrome (PMS) that affects mood and behavior. Mood disorders can have a significant impact on a person's quality of life, relationships, and ability to function in daily activities. Treatment typically involves a combination of medication, psychotherapy, and lifestyle changes.
In the medical field, a base sequence refers to the specific order of nucleotides (adenine, thymine, cytosine, and guanine) that make up the genetic material (DNA or RNA) of an organism. The base sequence determines the genetic information encoded within the DNA molecule and ultimately determines the traits and characteristics of an individual. The base sequence can be analyzed using various techniques, such as DNA sequencing, to identify genetic variations or mutations that may be associated with certain diseases or conditions.
CHO cells are a type of Chinese hamster ovary (CHO) cell line that is commonly used in the biotechnology industry for the production of recombinant proteins. These cells are derived from the ovaries of Chinese hamsters and have been genetically modified to produce large amounts of a specific protein or protein complex. CHO cells are often used as a host cell for the production of therapeutic proteins, such as monoclonal antibodies, growth factors, and enzymes. They are also used in research to study the structure and function of proteins, as well as to test the safety and efficacy of new drugs. One of the advantages of using CHO cells is that they are relatively easy to culture and can be grown in large quantities. They are also able to produce high levels of recombinant proteins, making them a popular choice for the production of biopharmaceuticals. However, like all cell lines, CHO cells can also have limitations and may not be suitable for all types of protein production.
Intellectual disability (ID) is a general term used to describe a range of conditions that affect cognitive functioning and adaptive behavior. It is characterized by significant limitations in intellectual functioning and adaptive behavior that occur during the developmental period, typically before the age of 18. Intellectual functioning refers to the ability to learn, reason, solve problems, and understand complex concepts. Adaptive behavior refers to the ability to function in daily life, including communication, social skills, and independent living skills. The severity of intellectual disability can vary widely, from mild to profound. People with mild intellectual disability may have some limitations in their cognitive and adaptive abilities, but they are still able to live independently and participate in many activities. People with profound intellectual disability, on the other hand, may have significant limitations in all areas of functioning and require extensive support and assistance. Intellectual disability can be caused by a variety of factors, including genetic disorders, brain injuries, infections, and exposure to toxins during pregnancy or early childhood. It is important to note that intellectual disability is not the same as mental illness or developmental delays, although these conditions may co-occur.
Asparagine is an amino acid that is naturally occurring in the human body and is also found in many foods. It is an essential amino acid, which means that it cannot be produced by the body and must be obtained through the diet. In the medical field, asparagine is sometimes used as a medication to treat certain types of cancer, such as ovarian cancer and multiple myeloma. It works by inhibiting the growth of cancer cells and promoting their death. Asparagine is also used to treat certain types of infections, such as herpes simplex virus and varicella-zoster virus. It is usually given intravenously, and the dosage and duration of treatment will depend on the specific condition being treated.
High-pressure liquid chromatography (HPLC) is a technique used in the medical field to separate and analyze complex mixtures of compounds. It involves the use of a liquid mobile phase that is forced through a column packed with a stationary phase under high pressure. The compounds in the mixture interact with the stationary phase to different extents, causing them to separate as they pass through the column. The separated compounds are then detected and quantified using a detector, such as a UV detector or a mass spectrometer. HPLC is commonly used in the analysis of drugs, biological samples, and other complex mixtures in the medical field.
Protein isoforms refer to different forms of a protein that are produced by alternative splicing of the same gene. Alternative splicing is a process by which different combinations of exons (coding regions) are selected from the pre-mRNA transcript of a gene, resulting in the production of different protein isoforms with slightly different amino acid sequences. Protein isoforms can have different functions, localization, and stability, and can play distinct roles in cellular processes. For example, the same gene may produce a protein isoform that is expressed in the nucleus and another isoform that is expressed in the cytoplasm. Alternatively, different isoforms of the same protein may have different substrate specificity or binding affinity for other molecules. Dysregulation of alternative splicing can lead to the production of abnormal protein isoforms, which can contribute to the development of various diseases, including cancer, neurological disorders, and cardiovascular diseases. Therefore, understanding the mechanisms of alternative splicing and the functional consequences of protein isoforms is an important area of research in the medical field.
In the medical field, "Cells, Cultured" refers to cells that have been grown and maintained in a controlled environment outside of their natural biological context, typically in a laboratory setting. This process is known as cell culture and involves the isolation of cells from a tissue or organism, followed by their growth and proliferation in a nutrient-rich medium. Cultured cells can be derived from a variety of sources, including human or animal tissues, and can be used for a wide range of applications in medicine and research. For example, cultured cells can be used to study the behavior and function of specific cell types, to develop new drugs and therapies, and to test the safety and efficacy of medical products. Cultured cells can be grown in various types of containers, such as flasks or Petri dishes, and can be maintained at different temperatures and humidity levels to optimize their growth and survival. The medium used to culture cells typically contains a combination of nutrients, growth factors, and other substances that support cell growth and proliferation. Overall, the use of cultured cells has revolutionized medical research and has led to many important discoveries and advancements in the field of medicine.
Glycopeptides are a class of biomolecules that consist of a peptide chain covalently linked to one or more carbohydrate molecules, also known as glycans. In the medical field, glycopeptides are often used as antibiotics to treat bacterial infections. They work by inhibiting the synthesis of bacterial cell walls, leading to cell lysis and death. Examples of glycopeptide antibiotics include vancomycin, teicoplanin, and dalbavancin. These antibiotics are often used to treat severe and resistant bacterial infections, such as those caused by methicillin-resistant Staphylococcus aureus (MRSA) and vancomycin-resistant enterococci (VRE).
Depressive Disorder, Major, also known as Major Depressive Disorder (MDD), is a mental health condition characterized by persistent and severe feelings of sadness, hopelessness, and loss of interest or pleasure in activities that were once enjoyable. People with MDD may also experience changes in appetite and sleep patterns, feelings of fatigue, difficulty concentrating, and thoughts of death or suicide. MDD is a common disorder that affects millions of people worldwide. It can occur at any age and can be caused by a combination of genetic, environmental, and psychological factors. MDD can have a significant impact on a person's daily life, including their ability to work, socialize, and take care of themselves. Treatment for MDD typically involves a combination of medication and psychotherapy, such as cognitive-behavioral therapy (CBT). It is important for people with MDD to seek professional help as soon as possible to receive appropriate treatment and support.
Glycosyltransferases are a group of enzymes that transfer sugar molecules (glycans) from a donor molecule to an acceptor molecule, forming a glycosidic bond. These enzymes play a crucial role in the biosynthesis of carbohydrates, which are essential components of many biological molecules, including proteins, lipids, and nucleic acids. In the medical field, glycosyltransferases are involved in various biological processes, including cell signaling, immune response, and cancer development. For example, some glycosyltransferases are involved in the synthesis of glycans on the surface of cells, which can affect their interactions with other cells and the immune system. Dysregulation of glycosyltransferases has been implicated in several diseases, including cancer, autoimmune disorders, and infectious diseases. Glycosyltransferases are also important targets for drug discovery, as they play a role in the metabolism of many drugs and toxins. Inhibitors of specific glycosyltransferases have been developed as potential therapeutic agents for a variety of diseases, including cancer, viral infections, and inflammatory disorders.
Attention Deficit Disorder with Hyperactivity (ADHD) is a neurodevelopmental disorder characterized by difficulty paying attention, excessive hyperactivity, and impulsivity. It is typically diagnosed in childhood and can persist into adulthood. Symptoms of ADHD can interfere with a person's ability to learn, socialize, and function in daily life. Treatment for ADHD may include medication, behavioral therapy, and lifestyle changes.
In the medical field, "Disease Models, Animal" refers to the use of animals to study and understand human diseases. These models are created by introducing a disease or condition into an animal, either naturally or through experimental manipulation, in order to study its progression, symptoms, and potential treatments. Animal models are used in medical research because they allow scientists to study diseases in a controlled environment and to test potential treatments before they are tested in humans. They can also provide insights into the underlying mechanisms of a disease and help to identify new therapeutic targets. There are many different types of animal models used in medical research, including mice, rats, rabbits, dogs, and monkeys. Each type of animal has its own advantages and disadvantages, and the choice of model depends on the specific disease being studied and the research question being addressed.
Depressive disorder, also known as major depressive disorder or clinical depression, is a mental health condition characterized by persistent feelings of sadness, hopelessness, and loss of interest or pleasure in activities that were once enjoyable. People with depressive disorder may also experience changes in appetite, sleep patterns, energy levels, and cognitive function. Depressive disorder can be a chronic condition that affects a person's ability to function in daily life, and it can also increase the risk of developing other mental health conditions, such as anxiety disorders and substance abuse disorders. Treatment for depressive disorder typically involves a combination of medication and psychotherapy, and it is important for individuals with depressive disorder to seek professional help as soon as possible to manage their symptoms and improve their quality of life.
In the medical field, carbohydrate conformation refers to the three-dimensional shape or structure of carbohydrates, which are complex organic molecules made up of carbon, hydrogen, and oxygen atoms. Carbohydrates play important roles in various biological processes, including energy metabolism, cell signaling, and immune responses. The conformation of carbohydrates is determined by the arrangement of their constituent atoms and the types of chemical bonds between them. There are two main types of carbohydrate conformations: alpha and beta. In alpha conformation, the hydroxyl groups on the carbon atoms are arranged in a specific way, while in beta conformation, the hydroxyl groups are arranged differently. The conformation of carbohydrates can also be influenced by factors such as temperature, pH, and the presence of other molecules. Understanding carbohydrate conformation is important for understanding how carbohydrates interact with other molecules in the body, such as proteins and enzymes, and for developing drugs and other therapeutic agents that target carbohydrate-based biomolecules.
N-Acetylglucosaminyltransferases (NAGTs) are a family of enzymes that play a crucial role in the biosynthesis of glycoproteins and glycolipids. These enzymes catalyze the transfer of N-acetylglucosamine (GlcNAc) from a UDP-GlcNAc donor to a specific acceptor molecule, such as a protein or lipid, to form a glycan chain. There are several types of NAGTs, each with a specific substrate specificity and function. For example, NAGT1 is involved in the synthesis of the O-linked glycans found on mucins, while NAGT2 is involved in the synthesis of the N-linked glycans found on glycoproteins. Disruptions in the function of NAGTs can lead to various diseases, including congenital disorders of glycosylation (CDGs), which are a group of rare genetic disorders characterized by abnormal glycosylation of proteins and lipids. CDGs can affect various organs and systems in the body and can result in a range of symptoms, including developmental delays, intellectual disability, and neurological problems.
Obsessive-Compulsive Disorder (OCD) is a mental health condition characterized by persistent and intrusive thoughts (obsessions) and repetitive behaviors or mental acts (compulsions) that an individual feels driven to perform. OCD can significantly impair an individual's daily functioning and quality of life. Obsessions are persistent, unwanted, and intrusive thoughts, images, or impulses that cause significant distress or anxiety. They can be related to a variety of themes, such as contamination, harm to oneself or others, symmetry, or orderliness. Compulsions are repetitive behaviors or mental acts that an individual feels driven to perform in response to an obsession. Compulsions can be physical or mental and may include washing hands, checking locks, counting, or repeating certain phrases. Individuals with OCD may experience both obsessions and compulsions, or they may only experience one or the other. OCD can also be accompanied by other mental health conditions, such as depression, anxiety, or substance abuse. Treatment for OCD typically involves a combination of psychotherapy and medication, such as selective serotonin reuptake inhibitors (SSRIs). Cognitive-behavioral therapy (CBT) is a type of psychotherapy that has been shown to be effective in treating OCD. It involves identifying and challenging negative thought patterns and replacing them with more positive and realistic ones.
Congenital disorder of glycosylation
Congenital disorder of glycosylation type IIc
Mannose phosphate isomerase
Glycogen storage disease
Dolichol kinase deficiency
GDP-fucose transporter 1
Stt3a, catalytic subunit of the oligosaccharyltransferase complex
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- Deficiencies in the genes involved in N-linked glycosylation constitute the molecular background of most CDGs. (wikipedia.org)
- Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. (beds.ac.uk)
- Dr. Lam's clinical and research interest is in congenital disorders of glycosylation (CDGs). (seattlechildrens.org)
- Enhanced excretion of Mn via bile or urine might be the cause of extremely low blood Mn levels in ZIP8-mutated patients, leading to the defects in Mn-dependent glycosylation. (nih.gov)
- This section reviews currently known congenital disorders of glycosylation associated with defects of protein O-glycosylation (Cylwik et al. (reactome.org)
- Congenital disorders of glycosylation are genetic disorders that occur due to defects in protein and lipid glycosylation pathways. (elsevierpure.com)
- However, defects in the Golgi enzyme MAN2A2 have not been known to cause defects in glycosylation. (rarediseasesnetwork.org)
- In the subgroup with 'purely' acquired causes (N = 80) strabismus (88% versus 64%), pale optic discs (65% versus 27%) and visual field defects (72% versus 30%) could be observed more frequent than in the subgroup with 'purely' genetic disorders (N = 28). (medscape.com)
- Missense mutations in the human SLC39A8 gene are associated with serious disorders of Mn metabolism, showing symptoms similar to congenital glycosylation deficiency. (nih.gov)
- Leukocyte adhesion deficiency II may be classified as one of the congenital disorders of glycosylation (CDG), a rapidly expanding group of metabolic syndromes with a wide symptomatology and severity. (medscape.com)
- Thus, patients with this type of leukocyte adhesion deficiency manifest both severe bacterial infections and bleeding disorder. (medscape.com)
- A deficiency of N-glycanase 1, encoded by the NGLY1 gene, results in a congenital disorder of deglycosylation. (elsevierpure.com)
- Despite the essential role of NGLY1 in deglycosylation pathways, the exact consequences of NGLY1 deficiency on global cellular protein glycosylation have not yet been investigated. (elsevierpure.com)
Inborn errors of2
- A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. (wikipedia.org)
- Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. (cdc.gov)
- The PMM2 enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. (medlineplus.gov)
- PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia-intellectual disability, and adult stable disability. (beds.ac.uk)
- Within the family of O-linked glycosylation, the oligosaccharides attached can be further categorized according to their reducing end residue: GalNAc (often described as mucin-type, due to the abundance of this type of glycosylation on mucins), Mannose and Fucose. (reactome.org)
- In today's multiethnic society, some genetic disorders previously thought to be confined to specific ethnic groups are increasingly being found in broader populations. (thermofisher.com)
- They used data from a Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) multicenter study consisting of 123 pediatric patients with PCD followed over 5 years. (rarediseasesnetwork.org)
- Unexplored pathways: The impact of abnormal glycosylation on the hypothalamic-pituitary-adrenal and -gonadal axes and bone health in patients with congenital disorders of glycosylation. (umn.edu)
- Three CDG subtypes PMM2-CDG, PMI-CDG, ALG6-CDG can cause congenital hyperinsulinism with hyperinsulinemic hypoglycemia in infancy. (wikipedia.org)
- PMM2 -congenital disorder of glycosylation ( PMM2 -CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. (medlineplus.gov)
- Osteogenesis imperfecta (OI) is a group of rare, inherited disorders caused by gene mutations resulting in fragile bones that break easily. (rarediseasesnetwork.org)
- The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). (rarediseasesnetwork.org)
- Congenital Disorders of Glycosylation (CDG) are a large family of rare genetic diseases for which effective therapies are almost nonexistent. (unl.pt)
- She is the site principal investigator and lead of the natural history for the Frontiers in Congenital Disorders of Glycosylation Consortium, a member of the Rare Diseases Clinical Research Network. (seattlechildrens.org)
- Additionally investigation will be conducted into the therapeutic potential of emerging molecular chaperone therapy for genetic diseases in which the predominant disease-causing mutations affect protein stability and/or folding but retain a considerable degree of residual activity, as in the case of congenital disorders of glycosylation (CDG). (fundacionareces.es)
- This year the awards fund innovative projects on heart and liver disease, mapping diseases of the brain, congenital genetic disease, and pancreatic cancer. (umn.edu)
- However, in persons with West syndrome or hydrocephalus, it might be impossible to unravel whether CVI is caused by the seizure disorder or increased intracranial pressure or by the underlying disorder (that in itself can be acquired or genetic). (medscape.com)
- CDG2K is an autosomal recessive disorder with a variable phenotype. (nih.gov)
- Using data from a natural history study of OI conducted by the Brittle Bone Disorders Consortium (BBDC), the team analyzed the prevalence, characteristics, treatments, and predictors of chronic pain. (rarediseasesnetwork.org)
- 3 g of protein/day due to a glomerular disorder plus edema and hypoalbuminemia. (msdmanuals.com)
- Proporciona un análisis completo de los genes involucrados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes involucrados. (igenomix.com)
- Some CDG subtypes, like SSR4-CDG 1y, have been classified as connective tissue disorders. (wikipedia.org)
- We further detected a total of 3255 N-glycopeptides derived from 550 glycosylation sites of 407 glycoproteins by multiplexed N-glycoproteomics. (elsevierpure.com)
- But genetic variants for a number of the most severe yet prevalent disorders can be challenging to detect by NGS assays. (thermofisher.com)
- Without a properly functioning PMM2 enzyme, glycosylation cannot proceed normally. (medlineplus.gov)
- The entire spectrum of cerebellar ocular motility disorders can occur in persons with OPCA. (medscape.com)
- The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases. (cdc.gov)
- Available at https://www.ninds.nih.gov/health-information/disorders/olivopontocerebellar-atrophy . (medscape.com)
- neurodevelopmental, metabolic and neuromuscular disorders. (nih.gov)
- These recommendations are intended for laboratories that perform biochemical genetic testing to improve the quality of laboratory services and for newborn screening laboratories to ensure the quality of laboratory practices for inherited metabolic disorders. (cdc.gov)
- Congenital disorders of glycosylation are sometimes known as CDG syndromes. (wikipedia.org)
- Collaborators at the King Faisal Specialist Hospital and the Kink Abdulaziz City for Science and Technology, Saudi Arabia, identify an homozygous mutation of ALG2 that is related to congenital muscle weakness disorders. (sagescience.com)
- Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement. (rarediseasesnetwork.org)
- Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. (seattlechildrens.org)
- Provides support for career development of biochemically trained professionals who have made a commitment to patient-oriented research in the Congenital Disorders of Glycosylation (CDG) and who have the potential to develop into productive preclinical investigators. (rarediseasesnetwork.org)
- NGS enables rapid carrier screening research across the broadest range of disorders, crossing ancestries and geographic regions, with a scalable, cost-effective solution. (thermofisher.com)
- She is also a member of the medical advisory committee of CDG-Care, a patient advocacy group for individuals with congenital disorders of glycosylation. (seattlechildrens.org)
- Congenital disorders of glycosylation (CDG) are a large group of rare, inherited disorders that affect a complex process in the body called glycosylation. (rarediseasesnetwork.org)
- FCDGC is funded under grant number U54NS115198 as a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the Office of Dietary Supplements (ODS). (rarediseasesnetwork.org)
- National Institute of Neurological Disorders and Stroke. (medscape.com)
- Some affected individuals have an eye disorder called retinitis pigmentosa that causes vision loss. (medlineplus.gov)
- Disorders of glycosylation are genetic conditions that result in a range of developmental problems from early childhood and others as one reaches adult years. (umn.edu)