|
3-hydroxy-3-methylglutaryl-CoA Lyase Deficiency
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, (HMGCLD) also known as HMGCL deficiency, HMG-CoA lyase deficiency, or hydroxymethylglutaric aciduria, is an uncommon autosomal recessive inborn error in ketone body production and leucine breakdown caused by HMGCL gene mutations. HMGCL, located on chromosome 1p36.11's short arm, codes for HMG-CoA lyase, which aids in the metabolism of dietary proteins by converting HMG-CoA into acetyl-CoA and acetoacetate. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency presents in various ways, from severe neonatal symptoms to adult symptoms. Symptoms include frequent vomiting, convulsions, and decreased alertness. Laboratory results include higher plasma/serum transaminase activity, hyperammonemia, acidosis, hypoglycemia, and an increased anion gap. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency can be identified during newborn screening using tandem mass spectrometry, and is confirmed by enzyme activity testing in lymphocytes, immortalized lymp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skeletal Formula
The skeletal formula, line-angle formula, bond-line formula or shorthand formula of an organic compound is a type of minimalist structural formula representing a molecule's Atom, atoms, structural isomer, bonds and some details of its molecular geometry, geometry. The lines in a skeletal formula represent bonds between carbon atoms, unless labelled with another element. Labels are optional for carbon atoms, and the hydrogen atoms attached to them. An early form of this representation was first developed by organic chemist August Kekulé, while the modern form is closely related to and influenced by the Lewis structure of molecules and their valence electrons. Hence they are sometimes termed Kekulé structures or Lewis–Kekulé structures. Skeletal formulas have become ubiquitous in organic chemistry, partly because they are relatively quick and simple to draw, and also because the Arrow pushing, curved arrow notation used for discussions of reaction mechanisms and Resonance ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tandem Mass Spectrometry
Tandem mass spectrometry, also known as MS/MS or MS2, is a technique in instrumental analysis where two or more stages of analysis using one or more mass analyzer are performed with an additional reaction step in between these analyses to increase their abilities to analyse chemical samples. A common use of tandem MS is the analysis of biomolecules, such as proteins and peptides. The molecules of a given sample are ionized and the first spectrometer (designated MS1) separates these ions by their mass-to-charge ratio (often given as m/z or m/Q). Ions of a particular m/z-ratio coming from MS1 are selected and then made to split into smaller fragment ions, e.g. by collision-induced dissociation, ion-molecule reaction, or photodissociation. These fragments are then introduced into the second mass spectrometer (MS2), which in turn separates the fragments by their m/z-ratio and detects them. The fragmentation step makes it possible to identify and separate ions that have very simil ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amino Acid Metabolism Disorders
In chemistry, amines (, ) are organic compounds that contain carbon-nitrogen bonds. Amines are formed when one or more hydrogen atoms in ammonia are replaced by alkyl or aryl groups. The nitrogen atom in an amine possesses a lone pair of electrons. Amines can also exist as hetero cyclic compounds. Aniline is the simplest aromatic amine, consisting of a benzene ring bonded to an amino group. Amines are classified into three types: primary (1°), secondary (2°), and tertiary (3°) amines. Primary amines (1°) contain one alkyl or aryl substituent and have the general formula RNH2. Secondary amines (2°) have two alkyl or aryl groups attached to the nitrogen atom, with the general formula R2NH. Tertiary amines (3°) contain three substituent groups bonded to the nitrogen atom, and are represented by the formula R3N. The functional group present in primary amines is called the amino group. Classification of amines Amines can be classified according to the nature and number o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mevalonate Pathway
The mevalonate pathway, also known as the isoprenoid pathway or HMG-CoA reductase pathway is an essential metabolic pathway present in eukaryotes, archaea, and some bacteria. The pathway produces two five-carbon building blocks called isopentenyl pyrophosphate (IPP) and dimethylallyl pyrophosphate (DMAPP), which are used to make isoprenoids, a diverse class of over 30,000 biomolecules such as cholesterol, vitamin K, coenzyme Q10, and all steroid hormones. The mevalonate pathway begins with acetyl-CoA and ends with the production of IPP and DMAPP. It is best known as the target of statins, a class of cholesterol lowering drugs. Statins inhibit HMG-CoA reductase within the mevalonate pathway. Upper mevalonate pathway The mevalonate pathway of eukaryotes, archaea, and eubacteria all begin the same way. The sole carbon feed stock of the pathway is acetyl-CoA. The first step condenses two acetyl-CoA molecules to yield acetoacetyl-CoA. This is followed by a second condensation to form ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carnitine
Carnitine is a quaternary ammonium compound involved in metabolism in most mammals, plants, and some bacteria. In support of energy metabolism, carnitine transports long-chain fatty acids from the cytosol into mitochondria to be oxidized for free energy production, and also participates in removing products of metabolism from cells. Given its key metabolic roles, carnitine is concentrated in tissues like skeletal and cardiac muscle that metabolize fatty acids as an energy source. Generally individuals, including strict vegetarians, synthesize enough L-carnitine in vivo. Carnitine exists as one of two stereoisomers: the two enantiomers -carnitine (''S''-(+)-) and -carnitine (''R''-(−)-). Both are biologically active, but only -carnitine naturally occurs in animals, and -carnitine is toxic as it inhibits the activity of the -form. At room temperature, pure carnitine is a whiteish powder, and a water-soluble zwitterion with relatively low toxicity. Derived from amino acids, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acetyl-CoA
Acetyl-CoA (acetyl coenzyme A) is a molecule that participates in many biochemical reactions in protein, carbohydrate and lipid metabolism. Its main function is to deliver the acetyl group to the citric acid cycle (Krebs cycle) to be oxidation, oxidized for energy production. Coenzyme A (CoASH or CoA) consists of a cysteamine, β-mercaptoethylamine group linked to pantothenic acid (vitamin B5) through an amide linkage and 3'-phosphorylated ADP. The acetyl group (indicated in blue in the structural diagram on the right) of acetyl-CoA is linked to the sulfhydryl substituent of the β-mercaptoethylamine group. This thioester linkage is a "high energy" bond, which is particularly reactive. Hydrolysis of the thioester bond is exergonic (−31.5 kJ/mol). CoA is acetylated to acetyl-CoA by the breakdown of carbohydrates through glycolysis and by the breakdown of fatty acids through Beta oxidation, β-oxidation. Acetyl-CoA then enters the citric acid cycle, where the acetyl group is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MR Spectroscopy
''Mister'', usually written in its contracted form ''Mr.'' (American English) or ''Mr'' (British English), is a commonly used English honorific for men without a higher honorific, or professional title, or any of various designations of office. The title ''Mr'' derived from earlier forms of ''master'', as the equivalent female titles ''Mrs'', ''Miss'', and '' Ms'' all derived from earlier forms of ''mistress''. ''Master'' is sometimes still used as an honorific for boys and young men. The plural form is ''Messrs''(.), derived from the French title ' in the 18th century. ' is the plural of ' (originally ', "my lord"), formed by declining both of its constituent parts separately. Historical etiquette Historically, ''mister'' was applied only to those above one's own status if they had no higher title such as '' Sir'' or ''my lord'' in the English class system. That understanding is now obsolete, as it was gradually expanded as a mark of respect to those of equal status and then ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metabolite
In biochemistry, a metabolite is an intermediate or end product of metabolism. The term is usually used for small molecules. Metabolites have various functions, including fuel, structure, signaling, stimulatory and inhibitory effects on enzymes, catalytic activity of their own (usually as a cofactor to an enzyme), defense, and interactions with other organisms (e.g. pigments, odorants, and pheromones). A primary metabolite is directly involved in normal "growth", development, and reproduction. Ethylene exemplifies a primary metabolite produced large-scale by industrial microbiology. A secondary metabolite is not directly involved in those processes, but usually has an important ecological function. Examples include antibiotics and pigments such as resins and terpenes etc. Some antibiotics use primary metabolites as precursors, such as actinomycin, which is created from the primary metabolite tryptophan. Some sugars are metabolites, such as fructose or glucose, which ar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoglycemia
Hypoglycemia (American English), also spelled hypoglycaemia or hypoglycæmia (British English), sometimes called low blood sugar, is a fall in blood sugar to levels below normal, typically below 70 mg/dL (3.9 mmol/L). Whipple's triad is used to properly identify hypoglycemic episodes. It is defined as blood glucose below 70 mg/dL (3.9 mmol/L), symptoms associated with hypoglycemia, and resolution of symptoms when blood sugar returns to normal. Hypoglycemia may result in headache, tiredness, clumsiness, trouble talking, confusion, fast heart rate, sweating, shakiness, nervousness, hunger, loss of consciousness, seizures, or death. Symptoms typically come on quickly. Symptoms can remain even soon after raised blood level. The most common cause of hypoglycemia is diabetes medication, medications used to treat diabetes such as insulin (medication), insulin, sulfonylureas, and biguanides. Risk is greater in diabetics who have eaten less than usual, recently exe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inborn Errors Of Metabolism
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ( substrates) into others ( products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology, a science based on the study of the enzymes and their products. Finally, ''inborn errors of metabolism'' were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gene–one enzyme" ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ketone Bodies
Ketone bodies are water-soluble molecules or compounds that contain the ketone groups produced from fatty acids by the liver ( ketogenesis). Ketone bodies are readily transported into tissues outside the liver, where they are converted into acetyl-CoA (acetyl-Coenzyme A)which then enters the citric acid cycle (Krebs cycle) and is oxidized for energy.Silva, B., Mantha, O. L., Schor, J., Pascual, A., Plaçais, P. Y., Pavlowsky, A., & Preat, T. (2022). Glia fuel neurons with locally synthesized ketone bodies to sustain memory under starvation. Nature Metabolism, 4(2), 213–224. https://doi.org/10.1038/s42255-022-00528-6 These liver-derived ketone groups include acetoacetic acid (acetoacetate), beta-hydroxybutyrate, and acetone, a spontaneous breakdown product of acetoacetate (see graphic). Ketone bodies are produced by the liver during periods of caloric restriction of various scenarios: low food intake (fasting), carbohydrate restrictive diets, starvation, prolonged intense e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
L-carnitine
Carnitine is a quaternary ammonium compound involved in metabolism in most mammals, plants, and some bacteria. In support of energy metabolism, carnitine transports long-chain fatty acids from the cytosol into mitochondria to be oxidized for free energy production, and also participates in removing products of metabolism from cells. Given its key metabolic roles, carnitine is concentrated in tissues like skeletal and cardiac muscle that metabolize fatty acids as an energy source. Generally individuals, including strict vegetarians, synthesize enough L-carnitine in vivo. Carnitine exists as one of two stereoisomers: the two enantiomers -carnitine (''S''-(+)-) and -carnitine (''R''-(−)-). Both are biologically active, but only -carnitine naturally occurs in animals, and -carnitine is toxic as it inhibits the activity of the -form. At room temperature, pure carnitine is a whiteish powder, and a water-soluble zwitterion with relatively low toxicity. Derived from amino acids, carnit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
