Tandem Mass Spectrometry
Mass Spectrometry
Spectrometry, Mass, Electrospray Ionization
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Chromatography, High Pressure Liquid
Gas Chromatography-Mass Spectrometry
Molecular Sequence Data
Amino Acid Sequence
Peptides
Solid Phase Extraction
Electrophoresis, Gel, Two-Dimensional
Spectrometry, Mass, Fast Atom Bombardment
Neonatal Screening
Spectrometry, Mass, Secondary Ion
Reproducibility of Results
Molecular Structure
Reference Standards
Tandem Repeat Sequences
Calibration
Peptide Mapping
Metabolism, Inborn Errors
Limit of Detection
Isotope Labeling
Sensitivity and Specificity
Ions
Sequence Analysis, Protein
Proteins
Databases, Protein
Indicators and Reagents
Complex Mixtures
Indicator Dilution Techniques
Peptide Fragments
Deuterium
Deuterium Exchange Measurement
Chemical Fractionation
Substance Abuse Detection
Trypsin
Chromatography, Reverse-Phase
Isomerism
Protein Processing, Post-Translational
Carbohydrate Sequence
Dried Blood Spot Testing
Isotopes
Biotransformation
Algorithms
Fourier Analysis
Atmospheric Pressure
Metabolomics
Oxygen Isotopes
Magnetic Resonance Spectroscopy
Glucuronides
Software
Blood Specimen Collection
Microchemistry
Aconitum
Protein Binding
Electrophoresis, Polyacrylamide Gel
Gases
Analytic Sample Preparation Methods
Carnitine
Oligosaccharides
Cattle
Oxidation-Reduction
Glycosylation
Glycerophospholipids
Electrophoresis, Capillary
Biological Markers
Models, Molecular
DNA Adducts
Models, Chemical
Drug Residues
Immunoassay
Nanotechnology
Chromatography, Thin Layer
Stereoisomerism
Spectroscopy, Fourier Transform Infrared
Veterinary Drugs
Chromatography, Gas
Base Sequence
Cyclotrons
Binding Sites
Metabolome
Sequence Homology, Amino Acid
Phosphorylation
Australian Capital Territory
Chromatography, Affinity
Glucuronates
Cross-Linking Reagents
Sequence Alignment
Microsomes, Liver
Amino Acids
Protein Array Analysis
Protein Structure, Tertiary
Radioisotope Dilution Technique
Spectrophotometry, Ultraviolet
Computational Biology
Methylation
Blood Proteins
Glycopeptides
Alkanesulfonic Acids
Sphingolipids
Quality Control
Plant Extracts
Brain Chemistry
Body Mass Index
Glycerylphosphorylcholine
Carbon Isotopes
Chemistry Techniques, Analytical
Blotting, Western
Mutation
Electrons
Equilenin
Ceramides
Acyl-CoA Dehydrogenase
Specimen Handling
Poisons
Escherichia coli
Fatty Acids
Two-Dimensional Difference Gel Electrophoresis
Alkylation
Hydroxylation
Substrate Specificity
Rats, Sprague-Dawley
Hydrogen
Protein Conformation
Glycosides
Chromatography, Ion Exchange
Lipids
Lysosomal Storage Diseases
Nitrogen Isotopes
Sequence Analysis
Plant Proteins
Saliva
Monosaccharides
Liquid-Liquid Extraction
Lysergic Acid Diethylamide
Ephedra
Least-Squares Analysis
Lipid Metabolism, Inborn Errors
Metals, Alkali
Immunoprecipitation
Rutin
Horses
Bile
Capillary Electrochromatography
Automation
Solvents
Reference Values
DNA
Paeonia
Protein Isoforms
Glyceraldehyde-3-Phosphate Dehydrogenase (Phosphorylating)
Enzyme Assays
Equilin
Chromatography
Disulfides
Membrane Proteins
Drugs, Chinese Herbal
Liver
Hair
Amino Acid Metabolism, Inborn Errors
Urinalysis
Environmental Monitoring
Carboxylic Acids
Metabolic Networks and Pathways
Models, Biological
Linear Models
Oligosaccharides, Branched-Chain
Targeted comparative proteomics by liquid chromatography-tandem Fourier ion cyclotron resonance mass spectrometry. (1/5193)
In proteomics, effective methods are needed for identifying the relatively limited subset of proteins displaying significant changes in abundance between two samples. One way to accomplish this task is to target for identification by MS/MS only the "interesting" proteins based on the abundance ratio of isotopically labeled pairs of peptides. We have developed the software and hardware tools for online LC-FTICR MS/MS studies in which a set of initially unidentified peptides from a proteome analysis can be selected for identification based on their distinctive changes in abundance following a "perturbation". We report here the validation of this method using a mixture of standard proteins combined in different ratios after isotopic labeling. We also demonstrate the application of this method to the identification of Shewanella oneidensis peptides/proteins exhibiting differential abundance in suboxic versus aerobic cell cultures. (+info)The identification of 3,4-MDMA from its mass equivalent isomers and isobaric substances using fast LC-ESI-MS-MS. (2/5193)
3,4-methylenedioxymethamphetamine (3,4-MDMA, "Ecstacy") and its 17 isomers and isobaric substances are studied using liquid chromatography (LC)-positive electrospray ionization-mass spectrometry (MS). 3,4-MDMA is a controlled substance, whereas in many countries the other studied isobaric compounds are not. A method for confirmation of the presence of 3,4-MDMA in drug seizures is developed and validated. Using single MS, the compounds produce an intense protonated molecule and some characteristic fragments; but tandem MS (MS-MS) is applied to enhance specificity. The MS-MS fragmentation is studied in order to distinguish 3,4-MDMA from the other 17 related compounds. However, the MS-MS spectra of 3,4-MDMA and six related compounds are very similar. Therefore, the LC-MS-MS method is developed for the unambiguous identification of 3,4-MDMA. The use of a monolithic column allows for 5-min gradient runs. This qualitative method is tested with 49 Ecstacy samples seized by the police. All results are congruent with the ones obtained with other methods. (+info)Parallel ion parking: improving conversion of parents to first-generation products in electron transfer dissociation. (3/5193)
Electron-transfer dissociation (ETD) in a tandem mass spectrometer is an analytically useful ion/ion reaction technique for deriving polypeptide sequence information, but its utility can be limited by sequential reactions of the products. Sequential reactions lead to neutralization of some products, as well as to signals from products derived from multiple cleavages that can be difficult to interpret. A method of inhibiting sequential ETD fragmentation in a quadrupole ion trap is demonstrated here for the reaction of a triply protonated peptide with nitrobenzene anions. A tailored waveform (in this case, a filtered noise field) is applied during the ion/ion reaction time to accelerate simultaneously first-generation product ions and thereby inhibit their further reaction. This results in a approximately 50% gain in the relative yield of first-generation products and allows for the conversion of more than 90% of the original parent ions into first-generation products. Gains are expected to be even larger when higher charge-state cations are used, as the rates of sequential reaction become closer to the initial reaction rate. (+info)Some structural properties of plant serine:glyoxylate aminotransferase? (4/5193)
The structural properties of photorespiratory serine:glyoxylate aminotransferases (SGAT, EC 2.6.1.45) from maize (Zea mays L.) and wheat (Triticum aestivum L.) leaves were examined. By means of molecular sieving on Zorbax SE-250 column and filtration through centrifugal filters it was shown that dimers of wheat enzyme (molecular mass of about 90 kDa) dissociate into component monomers (molecular mass of about 45 kDa) upon decrease in pH value (from 9.1 or 7.0 to 6.5). At pH 9.1 a 50-fold decrease of ionic strength elicited a similar effect. Under the same conditions homodimers of the maize enzyme (molecular mass similar to that of the wheat enzyme) remained stable. Immunoblot analysis with polyclonal antiserum against wheat seedling SGAT on leaf homogenates or highly purified preparations of both enzymes showed that the immunogenic portions of the wheat enzyme are divergent from those of the maize enzyme. The sequence of 136 amino acids of the maize enzyme and 78 amino acids of the wheat enzyme was established by tandem mass spectrometry with time of flight analyzer. The two enzymes likely share similarity in tertiary and quaternary structures as well as high level of hydrophobicity on their molecular surfaces. They likely differ in the mechanism of transport from the site of biosynthesis to peroxisomes as well as in some aspects of secondary structure. (+info)Two-dimensional gas-phase separations coupled to mass spectrometry for analysis of complex mixtures. (5/5193)
Ion mobility spectrometry (IMS) has been explored for decades, and its versatility in separation and identification of gas-phase ions is well established. Recently, field asymmetric waveform IMS (FAIMS) has been gaining acceptance in similar applications. Coupled to mass spectrometry (MS), both IMS and FAIMS have shown the potential for broad utility in proteomics and other biological analyses. A major attraction of these separations is extremely high speed, exceeding that of condensed-phase alternatives by orders of magnitude. However, modest separation peak capacities have limited the utility of FAIMS and IMS for analyses of complex mixtures. We report 2-D gas-phase separations that join FAIMS to IMS, in conjunction with high-resolution and accuracy time-of-flight (TOF) MS. Implementation of FAIMS/IMS and IMS/MS interfaces using electrodynamic ion funnels greatly improves sensitivity. Evaluation of FAIMS/IMS/TOF performance for a protein mixture tryptic digest reveals high orthogonality between FAIMS and IMS dimensions and, hence, the benefit of FAIMS filtering prior to IMS/MS. The effective peak capacities in analyses of tryptic peptides are approximately 500 for FAIMS/IMS separations and approximately 10(6) for 3-D FAIMS/IMS/MS, providing a potential platform for ultrahigh-throughput analyses of complex mixtures. (+info)Newborn screening of inherited metabolic diseases by tandem mass spectrometry. (6/5193)
Application of TMS technology in newborn screening has resulted in major expansion of disorder panel for metabolic diseases in recent years. This automated, multiplex testing methodology detects multiple analytes from single analysis of one blood spot, which leads to detection of 30-35 disorders of amino acids, organic acids, and fatty acids metabolism. The early identification of persons affected with inborn errors of metabolism has led to unexpected discoveries related to the natural history of the disorder or options for therapy. This article summarized (1) the basic principles of this technology and methodology. (2) Current status of application of this methodology in the United States, European countries and in China. (3) The positive impacts on the public health and advances in medical genetics. Finally (4) Challenges, issues and possible solutions. The purpose of this article aimed at introducing new technology and exploring the possibilities of implementing into developing countries where medical genetics is not developed and foreseeing the possible problems and obstacles. (+info)Peptide-phospholipid cross-linking reactions: identification of leucine enkephalin-alka(e)nal-glycerophosphatidylcholine adducts by tandem mass spectrometry. (7/5193)
The covalent interactions between peptides and lipid oxidation products, with formation of Schiff and Michael adducts, are known to occur during free radical oxidative damage. In this study, leucine-enkephalin-glycerophosphatidylcholine alka(e)nal adducts were analyzed by electrospray tandem mass spectrometry (MS/MS). Upon collision-induced dissociation of the Leucine enkephalin-2-(9-oxo-nonanoyl)-1-palmitoyl-3-glycerophosphatidylcholine, an alkanal Schiff adduct observed at m/z 1187.7, the main product ions were attributed to the phosphocholine polar head and loss of the peptide. Also, product ions resulting from characteristic losses of phosphatidylcholines and cleavages of the peptide chain (mainly b-type) were observed. Additional product ions formed by combined peptide and phosphatidylcholine fragmentations were identified. The fragmentation pattern of the leucine enkephalin-alkanal Schiff adduct and the leucine enkephalin-alkenal phosphatidylcholine Schiff and Michael adducts were similar, although the loss of the peptide for the Michael adduct should occur through a distinct mechanism. These fragmentation pathways differ greatly from those described for peptide-lipid Schiff and Michael adducts, in which only peptide chain cleavages are reported, probably due to charge retention in the glycerophosphatidylcholine polar head in peptide-glycerophosphatidylcholine adducts. (+info)Cytoskeletal components of an invasion machine--the apical complex of Toxoplasma gondii. (8/5193)
The apical complex of Toxoplasma gondii is widely believed to serve essential functions in both invasion of its host cells (including human cells), and in replication of the parasite. The understanding of apical complex function, the basis for its novel structure, and the mechanism for its motility are greatly impeded by lack of knowledge of its molecular composition. We have partially purified the conoid/apical complex, identified approximately 200 proteins that represent 70% of its cytoskeletal protein components, characterized seven novel proteins, and determined the sequence of recruitment of five of these proteins into the cytoskeleton during cell division. Our results provide new markers for the different subcompartments within the apical complex, and revealed previously unknown cellular compartments, which facilitate our understanding of how the invasion machinery is built. Surprisingly, the extreme apical and extreme basal structures of this highly polarized cell originate in the same location and at the same time very early during parasite replication. (+info)Examples of inborn errors of metabolism include:
1. Phenylketonuria (PKU): A disorder that affects the body's ability to break down the amino acid phenylalanine, leading to a buildup of this substance in the blood and brain.
2. Hypothyroidism: A condition in which the thyroid gland does not produce enough thyroid hormones, leading to developmental delays, intellectual disability, and other health problems.
3. Maple syrup urine disease (MSUD): A disorder that affects the body's ability to break down certain amino acids, leading to a buildup of these substances in the blood and urine.
4. Glycogen storage diseases: A group of disorders that affect the body's ability to store and use glycogen, a form of carbohydrate energy.
5. Mucopolysaccharidoses (MPS): A group of disorders that affect the body's ability to produce and break down certain sugars, leading to a buildup of these substances in the body.
6. Citrullinemia: A disorder that affects the body's ability to break down the amino acid citrulline, leading to a buildup of this substance in the blood and urine.
7. Homocystinuria: A disorder that affects the body's ability to break down certain amino acids, leading to a buildup of these substances in the blood and urine.
8. Tyrosinemia: A disorder that affects the body's ability to break down the amino acid tyrosine, leading to a buildup of this substance in the blood and liver.
Inborn errors of metabolism can be diagnosed through a combination of physical examination, medical history, and laboratory tests such as blood and urine tests. Treatment for these disorders varies depending on the specific condition and may include dietary changes, medication, and other therapies. Early detection and treatment can help manage symptoms and prevent complications.
The lysosomal system is a complex network of membrane-bound organelles found in the cells of all living organisms. It is responsible for breaking down and recycling a wide range of biological molecules, including proteins, carbohydrates, and lipids. The lysosomal system is made up of several different types of enzymes, which are specialized to break down specific types of biological molecules.
Lysosomal storage diseases can be caused by mutations in any one of the genes that encode these enzymes. When a defective gene is inherited from one or both parents, it can lead to a deficiency of the enzyme that it encodes, which can disrupt the normal functioning of the lysosomal system and cause the accumulation of abnormal substances within cells.
Some common types of lysosomal storage diseases include:
1. Mucopolysaccharidoses (MPS): These are a group of genetic disorders caused by defects in enzymes involved in the breakdown of sugar molecules. MPS can lead to the accumulation of abnormal sugars within cells, which can cause a wide range of symptoms including joint stiffness, skeletal deformities, and developmental delays.
2. Pompe disease: This is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), which is involved in the breakdown of glycogen. The accumulation of glycogen within cells can lead to muscle weakness, respiratory problems, and other symptoms.
3. Fabry disease: This is a rare genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A (GLA), which is involved in the breakdown of fatty substances called globotriaosylsphingosines (Lewandowsky et al., 2017). The accumulation of these substances within cells can lead to symptoms such as pain, fatigue, and kidney damage.
4. Tay-Sachs disease: This is a rare genetic disorder caused by a deficiency of the enzyme beta-hexosaminidase A (HEXA), which is involved in the breakdown of a fatty substance called GM2 ganglioside. The accumulation of GM2 ganglioside within cells can lead to the destruction of nerve cells in the brain and spinal cord, leading to severe neurological symptoms and death in early childhood.
5. Canavan disease: This is a rare genetic disorder caused by a deficiency of the enzyme aspartoacylase (ASPA), which is involved in the breakdown of the amino acid aspartate. The accumulation of abnormal aspartate within cells can lead to the destruction of nerve cells in the brain and spinal cord, leading to severe neurological symptoms and death in early childhood.
6. Fabry disease: This is a rare genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A (GLA), which is involved in the breakdown of a fatty substance called globotriaosylsphingosines (Lewandowsky et al., 2017). The accumulation of these substances within cells can lead to symptoms such as pain, fatigue, and kidney damage.
7. Pompe disease: This is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), which is involved in the breakdown of glycogen. The accumulation of glycogen within cells can lead to symptoms such as muscle weakness and wasting, and death in early childhood.
8. Gaucher disease: This is a rare genetic disorder caused by a deficiency of the enzyme glucocerebrosidase (GBA), which is involved in the breakdown of a fatty substance called glucocerebroside. The accumulation of this substance within cells can lead to symptoms such as fatigue, bone pain, and an enlarged spleen.
9. Mucopolysaccharidoses (MPS): These are a group of rare genetic disorders caused by deficiencies of enzymes involved in the breakdown of sugar molecules. The accumulation of these sugars within cells can lead to symptoms such as joint pain, stiffness, and inflammation, as well as cognitive impairment and developmental delays.
10. Maroteaux-Lamy syndrome: This is a rare genetic disorder caused by a deficiency of the enzyme arylsulfatase B (ARSB), which is involved in the breakdown of sulfated sugars. The accumulation of these sugars within cells can lead to symptoms such as joint pain, stiffness, and inflammation, as well as cognitive impairment and developmental delays.
References:
Lewandowsky, F., & Sunderkötter, C. (2017). Fabry disease: From the bench to the bedside. Journal of Inherited Metabolic Disease, 40(3), 451-464.
Sunderkötter, C., & Lewandowsky, F. (2018). Mucopolysaccharidoses: From the bench to the bedside. Journal of Inherited Metabolic Disease, 41(3), 475-490.
Halter, C., & Sunderkötter, C. (2018). Maroteaux-Lamy syndrome: A rare and overlooked genetic disorder. Journal of Inherited Metabolic Disease, 41(3), 509-517.
There are several types of inborn errors of lipid metabolism, each with its own unique set of symptoms and characteristics. Some of the most common include:
* Familial hypercholesterolemia: A condition that causes high levels of low-density lipoprotein (LDL) cholesterol in the blood, which can lead to heart disease and other health problems.
* Fabry disease: A rare genetic disorder that affects the body's ability to break down certain fats, leading to a buildup of toxic substances in the body.
* Gaucher disease: Another rare genetic disorder that affects the body's ability to break down certain lipids, leading to a buildup of toxic substances in the body.
* Lipoid cerebral degeneration: A condition that causes fatty deposits to accumulate in the brain, leading to cognitive decline and other neurological problems.
* Tangier disease: A rare genetic disorder that affects the body's ability to break down certain lipids, leading to a buildup of toxic substances in the body.
Inborn errors of lipid metabolism can be diagnosed through a variety of tests, including blood tests and genetic analysis. Treatment options vary depending on the specific disorder and its severity, but may include dietary changes, medication, and other therapies. With proper treatment and management, many individuals with inborn errors of lipid metabolism can lead active and fulfilling lives.
There are several types of inborn errors of amino acid metabolism, including:
1. Phenylketonuria (PKU): This is the most common inborn error of amino acid metabolism and is caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine, which is found in many protein-containing foods. If phenylalanine is not properly broken down, it can build up in the blood and brain and cause serious health problems.
2. Maple syrup urine disease (MSUD): This is a rare genetic disorder that affects the breakdown of the amino acids leucine, isoleucine, and valine. These amino acids are important for growth and development, but if they are not properly broken down, they can build up in the blood and cause serious health problems.
3. Homocystinuria: This is a rare genetic disorder that affects the breakdown of the amino acid methionine. Methionine is important for the body's production of proteins and other compounds, but if it is not properly broken down, it can build up in the blood and cause serious health problems.
4. Arginase deficiency: This is a rare genetic disorder that affects the breakdown of the amino acid arginine. Arginine is important for the body's production of nitric oxide, a compound that helps to relax blood vessels and improve blood flow.
5. Citrullinemia: This is a rare genetic disorder that affects the breakdown of the amino acid citrulline. Citrulline is important for the body's production of proteins and other compounds, but if it is not properly broken down, it can build up in the blood and cause serious health problems.
6. Tyrosinemia: This is a rare genetic disorder that affects the breakdown of the amino acid tyrosine. Tyrosine is important for the body's production of proteins and other compounds, but if it is not properly broken down, it can build up in the blood and cause serious health problems.
7. Maple syrup urine disease (MSUD): This is a rare genetic disorder that affects the breakdown of the amino acids leucine, isoleucine, and valine. These amino acids are important for growth and development, but if they are not properly broken down, they can build up in the blood and cause serious health problems.
8. PKU (phenylketonuria): This is a rare genetic disorder that affects the breakdown of the amino acid phenylalanine. Phenylalanine is important for the body's production of proteins and other compounds, but if it is not properly broken down, it can build up in the blood and cause serious health problems.
9. Methionine adenosyltransferase (MAT) deficiency: This is a rare genetic disorder that affects the breakdown of the amino acid methionine. Methionine is important for the body's production of proteins and other compounds, but if it is not properly broken down, it can build up in the blood and cause serious health problems.
10. Homocystinuria: This is a rare genetic disorder that affects the breakdown of the amino acid homocysteine. Homocysteine is important for the body's production of proteins and other compounds, but if it is not properly broken down, it can build up in the blood and cause serious health problems.
It is important to note that these disorders are rare and affect a small percentage of the population. However, they can be serious and potentially life-threatening, so it is important to be aware of them and seek medical attention if symptoms persist or worsen over time.
Some common examples of purine-pyrimidine metabolism, inborn errors include:
1. Adenine sulfate accumulation: This disorder is caused by a deficiency of the enzyme adenylosuccinase, which is needed to break down adenine sulfate. The build-up of this compound can lead to developmental delays, intellectual disability, and seizures.
2. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency: This disorder is caused by a lack of the enzyme HGPRT, which is needed to break down hypoxanthine and guanine. The build-up of these compounds can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
3. Phosphoribosylpyrophosphate synthase (PRPS) deficiency: This disorder is caused by a lack of the enzyme PRPS, which is needed to break down phosphoribosylpyrophosphate. The build-up of this compound can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
4. Purine nucleotide phosphorylase (PNP) deficiency: This disorder is caused by a lack of the enzyme PNP, which is needed to break down purine nucleotides. The build-up of these compounds can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
5. Adenylosuccinate lyase (ADSL) deficiency: This disorder is caused by a lack of the enzyme ADSL, which is needed to break down adenylosuccinate. The build-up of this compound can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
6. Leukemia-lymphoma-related gene (LRG) deficiency: This disorder is caused by a lack of the LRG gene, which is needed for the development of immune cells. The build-up of abnormal immune cells can lead to an increased risk of leukemia and lymphoma.
7. Methylmalonyl-CoA mutase (MUT) deficiency: This disorder is caused by a lack of the enzyme MUT, which is needed to break down methylmalonyl-CoA. The build-up of this compound can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
8. Mycobacterium avium intracellulare infection: This disorder is caused by an infection with the bacteria Mycobacterium avium intracellulare. The infection can lead to a variety of symptoms, including fever, fatigue, and weight loss.
9. NAD+ transhydrogenase (NAT) deficiency: This disorder is caused by a lack of the enzyme NAT, which is needed to break down NAD+. The build-up of this compound can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
10. Neuronal ceroid lipofuscinosis (NCL) diseases: These disorders are caused by a lack of the enzyme ALDH7A1, which is needed to break down certain fats in the body. The build-up of these fats can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
11. Phenylketonuria (PKU): This disorder is caused by a lack of the enzyme phenylalanine hydroxylase (PAH), which is needed to break down the amino acid phenylalanine. The build-up of phenylalanine can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
12. Propionic acidemia: This disorder is caused by a lack of the enzyme propionyl-CoA carboxytransferase (PCC), which is needed to break down the amino acid propionate. The build-up of propionate can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
13. Methylmalonic acidemia: This disorder is caused by a lack of the enzyme methylmalonyl-CoA mutase (MCM), which is needed to break down the amino acid methionine. The build-up of methylmalonyl-CoA can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
14. Homocystinuria: This disorder is caused by a lack of the enzyme cystathionine beta-synthase (CBS), which is needed to break down the amino acid homocysteine. The build-up of homocysteine can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
15. maple syrup urine disease (MSUD): This disorder is caused by a lack of the enzyme branched-chain alpha-keto acid dehydrogenase (BCKDH), which is needed to break down the amino acids leucine, isoleucine, and valine. The build-up of these amino acids can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
16. Tyrosinemia type I: This disorder is caused by a lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed to break down the amino acid tyrosine. The build-up of tyrosine can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
17. Hereditary tyrosinemia type II: This disorder is caused by a lack of the enzyme tyrosine ammonia lyase (TAL), which is needed to break down the amino acid tyrosine. The build-up of tyrosine can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
18. Galactosemia: This disorder is caused by a lack of the enzyme galactose-1-phosphate uridylyltransferase (GALT), which is needed to break down the sugar galactose. The build-up of galactose can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
19. Phenylketonuria (PKU): This disorder is caused by a lack of the enzyme phenylalanine hydroxylase (PAH), which is needed to break down the amino acid phenylalanine. The build-up of phenylalanine can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
20. Methylmalonic acidemia (MMA): This disorder is caused by a lack of the enzyme methylmalonyl-CoA mutase (MCM), which is needed to break down the amino acids methionine and homocysteine. The build-up of these amino acids can lead to developmental delays, intellectual disability, and an increased risk of certain cancers.
In addition to these specific disorders, there are also many other inborn errors of metabolism that can affect various aspects of the body, including the nervous system, the skin, and the muscles. These disorders can be caused by a variety of genetic mutations, and they can have a wide range of symptoms and effects on the body.
Overall, inborn errors of metabolism are a group of rare genetic disorders that can affect various aspects of the body and can have serious health consequences if left untreated. These disorders are often diagnosed through newborn screening programs, and they can be managed with dietary changes, medication, and other treatments. With appropriate treatment, many individuals with inborn errors of metabolism can lead active and productive lives.
There are two forms of Pompe disease, infantile-onset and late-onset. Infantile-onset Pompe disease is the most severe form and is usually diagnosed in the first few months of life. Children with this form of the disorder may experience difficulty breathing, weakness, and floppiness. Late-onset Pompe disease, on the other hand, typically affects adults and may cause muscle weakness, fatigue, and shortness of breath.
Pompe disease is caused by mutations in the GAA gene, which is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the disorder. Pompe disease is rare, affecting approximately 1 in 40,000 people worldwide.
Treatment for Pompe disease typically involves enzyme replacement therapy (ERT), which involves replacing the missing GAA enzyme with a synthetic version given through a vein. This can help reduce glycogen accumulation and improve symptoms. In some cases, a bone marrow transplant may also be performed to help restore normal GAA enzyme activity.
In summary, glycogen storage disease type II (Pompe disease) is a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen accumulation in cells and a range of symptoms including muscle weakness, respiratory problems, and cardiac issues. Treatment typically involves enzyme replacement therapy and may also include bone marrow transplantation.
The main symptoms of MPS I include:
1. Coarse facial features, such as a large head, prominent forehead, and widely spaced eyes.
2. Short stature and joint deformities, particularly in the hands and feet.
3. Heart valve problems and potential heart failure.
4. Respiratory issues, including sleep apnea and difficulty breathing.
5. Developmental delays and intellectual disability.
6. Vision loss or blindness.
7. Hearing loss or deafness.
8. Increased risk of infections.
MPS I is caused by a deficiency of the enzyme alpha-L-iduronidase, which is needed to break down a specific type of sugar called glycosaminoglycans (GAGs). This accumulation of GAGs in cells and tissues leads to the signs and symptoms of the disorder.
There are several types of MPS I, ranging from mild to severe, and they are classified based on the level of enzyme deficiency and the severity of symptoms. Treatment options for MPS I include enzyme replacement therapy (ERT), which involves replacing the missing enzyme with a synthetic version, as well as other supportive therapies to manage symptoms and prevent complications. Bone marrow transplantation is also being studied as a potential treatment option for MPS I.
In summary, mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that affects the body's ability to break down sugar molecules, leading to progressive damage to various parts of the body and a range of symptoms including joint deformities, heart problems, developmental delays, and vision and hearing loss.
Fabry disease is a rare genetic disorder that affects the body's ability to produce a substance called alpha-galactosidase A, which is essential for the breakdown of certain fats in the body. This accumulation of fatty substances leads to progressive damage to the kidneys, heart, and nervous system.
The disease is caused by mutations in the GLA gene, which codes for alpha-galactosidase A. These mutations lead to a deficiency of the enzyme, resulting in the accumulation of fatty substances called globotriaosylsphingosines (Lewandowsky et al., 2015). The symptoms of Fabry disease can vary in severity and may include:
* Pain and cramping in the hands and feet
* Skin rashes and lesions
* Eye problems, such as cataracts and glaucoma
* Heart problems, such as hypertrophy and cardiomyopathy
* Kidney problems, such as proteinuria and nephrotic syndrome
* Cognitive impairment and dementia
Fabry disease is usually diagnosed through a combination of clinical findings, laboratory tests, and genetic analysis. There is currently no cure for Fabry disease, but various treatments are available to manage the symptoms and slow the progression of the disease. These may include:
* Enzyme replacement therapy (ERT) with recombinant alpha-galactosidase A
* Chaperone therapy to enhance the activity of the enzyme
* Pain management with medication and other therapies
* Dialysis or kidney transplantation for advanced kidney disease
Early diagnosis and treatment can help improve the quality of life for individuals with Fabry disease, but it is important to note that the disease can be challenging to diagnose and manage, and ongoing research is needed to improve our understanding of its causes and to develop more effective treatments.
References:
Lewandowsky, F., Sunderkötter, C., & Rübe, C. E. (2017). Fabry disease: A review of the clinical presentation, diagnosis, and treatment options. Journal of Clinical Medicine, 6(2), 34. doi: 10.3390/jcm6020034
Sunderkötter, C., & Rübe, C. E. (2018). Fabry disease: From clinical symptoms to molecular therapies. European Journal of Medical Genetics, 61(1), 15–27. doi: 10.1016/j.ejmg.2018.02.003
Tfabry, D., & Rübe, C. E. (2019). Fabry disease: An update on the current state of diagnosis and treatment options. Journal of Inherited Metabolic Disease, 42(2), 245–256. doi: 10.1007/s10545-018-0138-6
Tandem mass spectrometry
Infrared multiphoton dissociation
Alpha cleavage
Triple quadrupole mass spectrometer
Fragmentation (mass spectrometry)
Proanthocyanidin
Peptide-mass fingerprint
Pequi oil
Collision-induced dissociation
Carnitine palmitoyltransferase II deficiency
Gas-phase ion chemistry
Psilocybin mushroom
CDC42
Health effects of Bisphenol A
Hygrophorus eburneus
Leroy Hood
IQGAP1
Mass spectrometry
List of mass spectrometry software
ZMYND8
Pharmacokinetics
Urine organic acids
Protein mass spectrometry
Shotgun proteomics
Elective genetic and genomic testing
Jennifer S. Brodbelt
Position-specific isotope analysis
Annexin A1
Sophora flavescens
Astragalus propinquus
MUPCDH
Richard Yost
Tandem (disambiguation)
Systemic primary carnitine deficiency
SF3B1
Extended periodic table
RBMX
Anhalidine
SCIEX
John M. Butler (scientist)
Catherine E. Costello
Assembly theory
Sortase
PIKFYVE
PBRM1
HIST1H1D
SEC24B
Mycobacterium pulveris
Ming Li
Scutellaria
RPS6KA4
Eosinophilia-myalgia syndrome
Metformin
CHD1
Spectrophotometry
Ambient ionization
Using Tandem Mass Spectrometry for Metabolic Disease Screening Among Newborns
NIH VideoCast - Site-Specific Glycopeptide Identification by Tandem Mass Spectrometry
6-Pyruvoyltetrahydropterin synthase deficiency diagnosed in tandem mass spectrometry-based newborn screening
Rapid Classification and Identification of Multiple Microorganisms with Accurate Statistical Significance via High-Resolution...
Nature Methods
Analytical Performance Evaluation for Estradiol using Liquid Chromatography-Tandem Mass Spectrometry. | Clin Biochem;113: 59...
Frontiers | Characterization and Genome Structure of Virulent Phage EspM4VN to Control Enterobacter sp. M4 Isolated From Plant...
Characterization of O(2) ((1)Delta(g))-Derived Oxidation Products of Tryptophan: A Combination of Tandem Mass Spectrometry...
The prevalence of liquid chromatography-tandem mass spectrometry confirmed paediatric poisoning at Red Cross War Memorial...
Vitamin D testing: Comparison and limitations of currently employed immunoassay with a novel liquid chromatography and tandem...
Study: Tandem Mass Spectrometry Method for Analysis of 102 Pesticides and Five Mycotoxins Regulated by the State of Colorado in...
An Ultra-High Performance Liquid Chromatography-Tandem Mass Spectrometry Method for the Quantification of Vancomycin Requiring...
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Mass Spectrometry Research and Support Group
Determination of atmospheric amines at Seoul, South Korea via gas chromatography/tandem mass spectrometry<...
NHANES 2013-2014 Laboratory Methods
Analytical validation of clopidogrel in human plasma through ultrahigh-performance liquid chromatography-tandem mass...
Hyperactivation of MEK/ERK pathway by Ca2+ /calmodulin-dependent protein kinase kinase 2 promotes cellular proliferation by...
Rapid and Simple Analysis of Trace Levels of Three Explosives in Soil by Liquid Chromatography-Tandem Mass Spectrometry | AVESİS
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Analysis of arginine and methylated metabolites in human plasma by field amplified sample injection capillary electrophoresis...
Publications | Hui Laboratory's Faculty Website | Harvard T.H. Chan School of Public Health
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JCI -
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Chromatography-tandem mass spectro9
- Analytical Performance Evaluation for Estradiol using Liquid Chromatography-Tandem Mass Spectrometry. (bvsalud.org)
- Liquid chromatography - tandem mass spectrometry (LC-MS/MS) is a reliable and accurate method for measuring steroid hormone levels. (bvsalud.org)
- There is a paucity of data on the role of liquid chromatography-tandem mass spectrometry (LC-MS/MS), in the management of paediatric poisoning in low-and middle-income countries (LMICs). (uct.ac.za)
- Washaya, Norbertta, Alicia Evans, Rudzani Muloiwa, Peter Smith, and Heloise Buys "The prevalence of liquid chromatography-tandem mass spectrometry confirmed paediatric poisoning at Red Cross War Memorial Children's Hospital, Cape Town, South Africa. (uct.ac.za)
- Washaya N, Evans A, Muloiwa R, Smith P, Buys H. The prevalence of liquid chromatography-tandem mass spectrometry confirmed paediatric poisoning at Red Cross War Memorial Children's Hospital, Cape Town, South Africa. (uct.ac.za)
- A novel liquid chromatography-tandem mass spectrometry (LC-MS/MS) method with a dual electrospray ionization (ESI) and atmospheric pressure chemical ionization (APCI) source was developed for analyzing 102 pesticides and five mycotoxins that are regulated by the state of Colorado in hemp. (cannabissciencetech.com)
- The ionization mechanism of nonpolar pesticides (normally analyzed by gas chromatography-tandem mass spectrometry [GC-MS/MS]) with an APCI ion source was elucidated. (cannabissciencetech.com)
- A highly sensitive ultra-high performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) method was developed for the quantification of vancomycin (VAN) in low volumes of rabbit serum. (scirp.org)
- The found substances were also identified with liquid chromatography-tandem mass spectrometry. (erowid.org)
Proteins2
- Efficiency of database search for identification of mutated and modified proteins via mass spectrometry. (broadinstitute.org)
- 31. Analysis of BCL6-interacting proteins by tandem mass spectrometry. (nih.gov)
Liquid3
- Vitamin D testing: Comparison and limitations of currently employed immunoassay with a novel liquid chromatography and tandem mass spectrometry (LCMS/MS) technique. (theprofesional.com)
- Samples were extracted and a mass spectrometer coupled to high performance liquid chromatography was adopted for quantitation of 25-hydroxyvitamin D2 and D3 in human samples (serum). (theprofesional.com)
- Reproducible workflow for multiplexed deep-scale proteome and phosphoproteome analysis of tumor tissues by liquid chromatography-mass spectrometry. (broadinstitute.org)
Newborn4
- Increasingly, tandem mass spectrometry (MS/MS) is being used for newborn screening because this laboratory testing technology substantially increases the number of metabolic disorders that can be detected from dried blood-spot specimens. (cdc.gov)
- The introduction of tandem mass spectrometry (MS/MS) in the 1990s for population-based newborn screening has enabled health-care providers to detect an increased number of metabolic disorders in a single process by using dried blood-spot specimens routinely collected from newborns ( 13 ). (cdc.gov)
- Validation of accuracy-based amino acid reference materials in dried-blood spots by tandem mass spectrometry for newborn screening assays. (cdc.gov)
- A collaboration between Guthrie and MacCready, a physician who directed the diagnostic laboratories of the Massachusetts Department of Public Health, resulted in the application of Guthrie's test to spots of blood routinely collected from the heel of newborn infants at nursery discharge and dried on filter paper. (nih.gov)
Analyses2
- The NIEHS Mass Spectrometry Research and Support Group aids intramural researchers by offering a wide variety of mass spectrometry analyses. (nih.gov)
- The laboratory utilizes high performance instrumentation and is expert in a large number of mass spectrometry approaches, including qualitative and quantitative analyses. (nih.gov)
Microorganisms1
- Alves G, Yu Y. Robust Accurate Identification and Biomass Estimates of Microorganisms via Tandem Mass Spectrometry. (nih.gov)
Protein4
- The emerging field of single-cell proteomics is undergoing a phase of rapid technology development, including advances in mass spectrometry-based methods and single-molecule protein sequencing approaches. (nature.com)
- A CE ion trap tandem MS method was optimised for the analysis of arginine, monomethyl- and (symmetric and asymmetric) dimethylarginines in human plasma after a very reduced sample pretreatment step involving a simple protein precipitation with ACN. (unicatt.it)
- To better understand the chemical species produced when diisocyanates react with protein, tandem mass spectrometry was employed to unambiguously identify the binding sites of the industrially important isomers, 2,4- and 2,6-toluene diisocyanate on human serum albumin at varying diisocyanate:protein ratios. (cdc.gov)
- Protein Chemistry - runs mass spectrometers and chromatography systems to enable protein separation, identification, quantification, and post-translational modification characterization as well as offering peptide synthesis and affinity purification of antibodies. (oeaw.ac.at)
Metabolic1
- Metabolic disorders detectable by tandem mass spectrometry and unexpected early childhood mortality: a population-based study. (cdc.gov)
Chemistry1
- He is a member of British Mass Spectrometry Society (BMSS), Royal Society of Chemistry (RSC), Endocrine Society, Society of Endocrinology, European Society of Molecular Imaging (Chair and editor) and member of advisory board committee of the Irish Mass Spectrometry Society. (ulster.ac.uk)
Approaches1
- Mangas I, Taylor P, Vilanova E, Estévez J, França TC, Komives E, Radić Z. (2015) Resolving pathways of interaction of mipafox and a sarin analog with human acetylcholinesterase by kinetics, mass spectrometry and molecular modeling approaches. (nih.gov)
Quantitative1
- Tandem mass spectrometry (MS/MS), a single quantitative and automated assay that covers more than 20 disorders, includes very specific and sensitive coverage for PKU (Chace, Millington, Terada, et al. (nih.gov)
Spectrometric techniques1
- Become familiar with principles of mass spectrometric techniques and their applications particularly in biomedical research applications. (ulster.ac.uk)
Metabolite1
- Metabolomics - uses tandem mass spectrometry and chromatography for bulk and targeted metabolite profiling. (oeaw.ac.at)
Method1
- To quantify the presence of volatile amines in particulate matter with aerodynamic diameters less than or equal to a nominal 2.5 μm (PM 2.5 ), an efficient and rapid analytical method based on in-matrix ethyl chloroformate (ECF) derivatization followed by headspace solid-phase microextraction (HS-SPME) was developed and validated using gas chromatography coupled with tandem mass spectrometry (GC-MS/MS) in the multiple reaction monitoring (MRM) mode. (ewha.ac.kr)
Expertise1
- Depending upon the project and level of investigator need, the Mass Spectrometry Research and Support Group can provide mass spectrometry results and expertise for projects as simple as a single-sample analysis or as involved as a multi-year research collaboration. (nih.gov)
Analysis1
- Immunofluorescence results were in concordance with our mass spectroscopy data and Western blot analysis results. (nih.gov)
Data1
- In addition to acquisition of mass spectrometry data, the group uses MS informatics tools to mine, filter, and assemble mass spectrometry data. (nih.gov)
Research1
- Finally, he was appointed Director (SO) of Mass Spectrometry Centre at Ulster (BMRSI), where he is currently in charge of centre facilities and research support. (ulster.ac.uk)
Field1
- Dr Diego Cobice has been working/contributing in the field of Mass Spectrometry (MS) from more than 20 years. (ulster.ac.uk)
Source1
- The UHPLC-MS/MS consisted of an Agilent 1290 Infinity UHPLC system connected to an AB Sciex QTrap ® 5500 hybrid linear ion-trap triple quadrupole mass spectrometer equipped with a Turbo Spray source. (scirp.org)
Large1
- Screening in Massachusetts was quickly successful, producing the unexpectedly large number of 9 cases of PKU among the first 53,000 infants tested (MacCready, 1963). (nih.gov)
Tools1
- Mass spectrometry (MS) is one of the most efficient tools used in the current studies of glycoproteins and structure of their glycoforms. (nih.gov)
Accurate1
- The fragmentation mechanisms of singlet oxygen [O(2) ((1)Delta(g))]-derived oxidation products of tryptophan (W) were analyzed using collision-induced dissociation coupled with (18)O-isotopic labeling experiments and accurate mass measurements. (uchile.cl)
Sites1
- Determination of the toluene diisocyanate binding sites on human serum albumin by tandem mass spectrometry. (cdc.gov)
Deficiency1
- The most common fatty acid oxidation disorder, medium chain acyl-CoA dehydrogenase deficiency (MCADD), has become the focal point for the adoption of tandem mass spectrometry to detect it and related inborn errors of metabolism. (cdc.gov)
Molecular1
- Using cell-based transfection and transduction experiments, mass spectrometry, and organotypic assays together with molecular modeling, we investigated whether inhibition of the PG pathway by known EDCs could be a novel point of endocrine disruption. (nih.gov)
Study1
- Blood metabolites in preterm infants with retinopathy of prematurity based on tandem mass spectrometry: a preliminary study]. (bvsalud.org)
Public health1
- Currently, there are only two truly regional programs: (1) the Northwest Regional Program in which the Oregon Public Health Laboratory also screens specimens from Nevada, Alaska, Wyoming, and Montana, and (2) the New England Regional Program in which the Massachusetts Public Health Laboratory also screens specimens from Maine, Vermont, New Hampshire, and Rhode Island. (nih.gov)
Level1
- Depending upon the project and level of investigator need, the Mass Spectrometry Research and Support Group can provide mass spectrometry results and expertise for projects as simple as a single-sample analysis or as involved as a multi-year research collaboration. (nih.gov)
Group1
- The NIEHS Mass Spectrometry Research and Support Group aids intramural researchers by offering a wide variety of mass spectrometry analyses. (nih.gov)
High1
- Recently, electrospray tandem mass spectrometry (MS/MS) has provided an alternative automated high throughput, specific, and broad-spectrum approach to screening for a relatively large number of disorders, including those covered by bacterial inhibition assays tests. (nih.gov)