Methylmalonic Acid
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Methylmalonic Acid
Methylmalonic acid (MMA) (conjugate base methylmalonate) is a dicarboxylic acid that is a ''C''-methylated derivative of malonate. The coenzyme A linked form of methylmalonic acid, methylmalonyl-CoA, is converted into succinyl-CoA by methylmalonyl-CoA mutase, in a reaction that requires vitamin B12 as a cofactor. In this way, it enters the Krebs cycle, and is thus part of one of the anaplerotic reactions. Pathology Increased methylmalonic acid levels may indicate a vitamin B12 deficiency. However, it is sensitive (those with the deficiency almost always test positive) but not specific (those that do not have vitamin B12 deficiency may have elevated levels of methylmalonic acid detected). MMA is elevated in 90–98% of patients with B12 deficiency. It has lower specificity as 20–25% of patients over the age of 70 have elevated levels of MMA, but 25–33% of them do not have B12 deficiency. For this reason, MMA test is not routinely recommended in the elderly. Moreover, recently ...
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Conjugate Acid
A conjugate acid, within the Brønsted–Lowry acid–base theory, is a chemical compound formed when an acid donates a proton () to a base—in other words, it is a base with a hydrogen ion added to it, as in the reverse reaction it loses a hydrogen ion. On the other hand, a conjugate base is what is left over after an acid has donated a proton during a chemical reaction. Hence, a conjugate base is a species formed by the removal of a proton from an acid, as in the reverse reaction it is able to gain a hydrogen ion. Because some acids are capable of releasing multiple protons, the conjugate base of an acid may itself be acidic. In summary, this can be represented as the following chemical reaction: :acid + base conjugate\ base + conjugate\ acid Johannes Nicolaus Brønsted and Martin Lowry introduced the Brønsted–Lowry theory, which proposed that any compound that can transfer a proton to any other compound is an acid, and the compound that accepts the proton is a b ...
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Small Intestine
The small intestine or small bowel is an organ in the gastrointestinal tract where most of the absorption of nutrients from food takes place. It lies between the stomach and large intestine, and receives bile and pancreatic juice through the pancreatic duct to aid in digestion. The small intestine is about long and folds many times to fit in the abdomen. Although it is longer than the large intestine, it is called the small intestine because it is narrower in diameter. The small intestine has three distinct regions – the duodenum, jejunum, and ileum. The duodenum, the shortest, is where preparation for absorption through small finger-like protrusions called villi begins. The jejunum is specialized for the absorption through its lining by enterocytes: small nutrient particles which have been previously digested by enzymes in the duodenum. The main function of the ileum is to absorb vitamin B12, bile salts, and whatever products of digestion that were not absorbed by the ...
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Liquid Chromatography–mass Spectrometry
Liquid chromatography–mass spectrometry (LC–MS) is an analytical chemistry technique that combines the physical separation capabilities of liquid chromatography (or HPLC) with the mass analysis capabilities of mass spectrometry (MS). Coupled chromatography - MS systems are popular in chemical analysis because the individual capabilities of each technique are enhanced synergistically. While liquid chromatography separates mixtures with multiple components, mass spectrometry provides spectral information that may help to identify (or confirm the suspected identity of) each separated component. MS is not only sensitive, but provides selective detection, relieving the need for complete chromatographic separation. LC-MS is also appropriate for metabolomics because of its good coverage of a wide range of chemicals. This tandem technique can be used to analyze biochemical, organic, and inorganic compounds commonly found in complex samples of environmental and biological origin. There ...
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Mass Spectrometry
Mass spectrometry (MS) is an analytical technique that is used to measure the mass-to-charge ratio of ions. The results are presented as a ''mass spectrum'', a plot of intensity as a function of the mass-to-charge ratio. Mass spectrometry is used in many different fields and is applied to pure samples as well as complex mixtures. A mass spectrum is a type of plot of the ion signal as a function of the mass-to-charge ratio. These spectra are used to determine the elemental or isotopic signature of a sample, the masses of particles and of molecules, and to elucidate the chemical identity or structure of molecules and other chemical compounds. In a typical MS procedure, a sample, which may be solid, liquid, or gaseous, is ionized, for example by bombarding it with a beam of electrons. This may cause some of the sample's molecules to break up into positively charged fragments or simply become positively charged without fragmenting. These ions (fragments) are then separated accordin ...
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Gas-liquid Chromatography
Gas chromatography (GC) is a common type of chromatography used in analytical chemistry for separating and analyzing compounds that can be vaporized without decomposition. Typical uses of GC include testing the purity of a particular substance, or separating the different components of a mixture. In preparative chromatography, GC can be used to prepare pure compounds from a mixture. Gas chromatography is also sometimes known as vapor-phase chromatography (VPC), or gas–liquid partition chromatography (GLPC). These alternative names, as well as their respective abbreviations, are frequently used in scientific literature. Gas chromatography is the process of separating compounds in a mixture by injecting a gaseous or liquid sample into a mobile phase, typically called the carrier gas, and passing the gas through a stationary phase. The mobile phase is usually an inert gas or an unreactive gas such as helium, argon, nitrogen or hydrogen. The stationary phase is a microscopic la ...
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Combined Malonic And Methylmalonic Aciduria
Combined malonic and methylmalonic aciduria (CMAMMA), also called combined malonic and methylmalonic acidemia is an inherited metabolic disease characterized by elevated levels of malonic acid and methylmalonic acid. Some researchers have hypothesized that CMAMMA might be one of the most common forms of methylmalonic acidemia, and possibly one of the most common inborn errors of metabolism. Due to being infrequently diagnosed, it most often goes undetected. Symptoms and signs The clinical phenotypes of CMAMMA are highly heterogeneous and range from asymptomatic, mild to severe symptoms. The underlying pathophysiology is not yet understood. The following symptoms are reported in the literature: * metabolic acidosis * coma * hypoglycemia * seizures * gastrointestinal disease * developmental delay * speech delay * failure to thrive * psychiatric disease * memory problems * cognitive decline * encephalopathy * cardiomyopathy * dysmorphic features When the first symptoms appear in ...
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Malonic Acid
Malonic acid (IUPAC systematic name: propanedioic acid) is a dicarboxylic acid with structure CH2(COOH)2. The ionized form of malonic acid, as well as its esters and salts, are known as malonates. For example, diethyl malonate is malonic acid's diethyl ester. The name originates from the Greek word μᾶλον (''malon'') meaning 'apple'. History Malonic acid is a naturally occurring substance found in many fruits and vegetables. There is a suggestion that citrus fruits produced in organic farming contain higher levels of malonic acid than fruits produced in conventional agriculture. Malonic acid was first prepared in 1858 by the French chemist Victor Dessaignes via the oxidation of malic acid. Structure and preparation The structure has been determined by X-ray crystallography and extensive property data including for condensed phase thermochemistry are available from the National Institute of Standards and Technology. A classical preparation of malonic acid starts from chlor ...
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Methylmalonic Acidemia
Methylmalonic acidemia, also called methylmalonic aciduria, is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. It is a classical type of organic acidemia. The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood. Methylmalonic acidemia stems from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia. The disorder can result in death if undiagnosed or left untreated. It is estimated that this disorder has a frequency of 1 in 48,000 births, though the high mortality rate in diagnosed cases make exact determination difficult. Methylmalonic acidemias are found with an equal frequency across ethnic boundaries. Symptoms and signs Depending on the affected gene(s), this disorder may present symptoms that range from mild to life ...
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Metronidazole
Metronidazole, sold under the brand name Flagyl among others, is an antibiotic and antiprotozoal medication. It is used either alone or with other antibiotics to treat pelvic inflammatory disease, endocarditis, and bacterial vaginosis. It is effective for dracunculiasis, giardiasis, trichomoniasis, and amebiasis. It is an option for a first episode of mild-to-moderate ''Clostridium difficile'' colitis if vancomycin or fidaxomicin is unavailable. Metronidazole is available by mouth, as a cream, and by injection into a vein. Common side effects include nausea, a metallic taste, loss of appetite, and headaches. Occasionally seizures or allergies to the medication may occur. Some state that metronidazole should not be used in early pregnancy, while others state doses for trichomoniasis are safe. Metronidazole is generally considered compatible with breastfeeding. Metronidazole began to be commercially used in 1960 in France. It is on the World Health Organization's List of Esse ...
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Propionate
Propionic acid (, from the Greek words πρῶτος : ''prōtos'', meaning "first", and πίων : ''píōn'', meaning "fat"; also known as propanoic acid) is a naturally occurring carboxylic acid with chemical formula CH3CH2CO2H. It is a liquid with a pungent and unpleasant smell somewhat resembling body odor. The anion CH3CH2CO2− as well as the salts and esters of propionic acid are known as propionates or propanoates. History Propionic acid was first described in 1844 by Johann Gottlieb, who found it among the degradation products of sugar. Over the next few years, other chemists produced propionic acid by different means, none of them realizing they were producing the same substance. In 1847, French chemist Jean-Baptiste Dumas established all the acids to be the same compound, which he called propionic acid, from the Greek words πρῶτος (prōtos), meaning ''first'', and πίων (piōn), meaning ''fat'', because it is the smallest H(CH2)''n''COOH acid that exhibit ...
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Short Bowel Syndrome
Short bowel syndrome (SBS, or simply short gut) is a rare malabsorption disorder caused by a lack of functional small intestine. The primary symptom is diarrhea, which can result in dehydration, malnutrition, and weight loss. Other symptoms may include bloating, heartburn, feeling tired, lactose intolerance, and foul-smelling stool. Complications can include anemia and kidney stones. Most cases are due to the surgical removal of a large portion of the small intestine. This is most often required due to Crohn's disease in adults and necrotising enterocolitis in young children. Other causes include damage to the small intestine from other means and being born with an abnormally short intestine. It usually does not develop until less than of the normally small intestine remains. Treatment may include a specific diet, medications, or surgery. The diet may include slightly salty and slightly sweet liquids, vitamin and mineral supplements, small frequent meals, and the avoidance of ...
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Vitamin B12 Deficiency
Vitamin B12 deficiency, also known as cobalamin deficiency, is the medical condition in which the blood and tissue have a lower than normal level of vitamin B12. Symptoms can vary from none to severe. Mild deficiency may have few or absent symptoms. In moderate deficiency, feeling tired, anemia, soreness of the tongue, mouth ulcers, breathlessness, feeling faint, rapid heartbeat, low blood pressure, pallor, hair loss, decreased ability to think and severe joint pain and the beginning of neurological symptoms, including abnormal sensations such as ''pins and needles'', numbness and tinnitus may occur. Severe deficiency may include symptoms of reduced heart function as well as more severe neurological symptoms, including changes in reflexes, poor muscle function, memory problems, blurred vision, irritability, ataxia, decreased smell and taste, decreased level of consciousness, depression, anxiety, guilt and psychosis. If left untreated, some of these changes can become perm ...
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