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Isovaleric Acidemia
Isovaleric acidemia is a rare autosomal recessive metabolic disorder which disrupts or prevents normal metabolism of the branched-chain amino acid leucine. It is a classical type of organic acidemia. Symptoms and signs A characteristic feature of isovaleric acidemia is a distinctive odor of sweaty feet. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals. In about half of cases, the signs and symptoms of this disorder become apparent within a few days after birth and include poor feeding, vomiting, seizures, and lack of energy that can progress to coma. These medical problems are typically severe and can be life-threatening. In the other half of cases, the signs and symptoms of the disorder appear during childhood and may come and go over time. They are often triggered by an infection. Genetics The disorder has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Isovaleric Acid
Isovaleric acid, also known as 3-methylbutanoic acid or β-methylbutyric acid, is a branched-chain alkyl carboxylic acid with the chemical formula (CH3)2CHCH2CO2H. It is classified as a short-chain fatty acid. Like other low-molecular-weight carboxylic acids, it has an unpleasant odor. The compound occurs naturally and can be found in many foods, such as cheese, soy milk, and apple juice. History 3-Methylbutanoic acid is a minor constituent of the perennial flowering plant valerian ('' Valeriana officinalis''), from which it got its trivial name isovaleric acid: an isomer of valeric acid which shares its unpleasant odor. The dried root of this plant has been used medicinally since antiquity. Their chemical identity was first investigated in the 19th century by oxidation of the components of fusel alcohol, which includes the five-carbon amyl alcohols. Manufacture In industry, 3-methylbutanoic acid is produced by the hydroformylation of isobutylene with syngas, forming is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromos ... [...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] |
Propionic Acidemia
Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia. The disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of muscle tone. Without treatment, death can occur quickly, due to secondary hyperammonemia, infection, cardiomyopathy, or brain damage. Symptoms and signs Propionic acidemia can vary in severity. Severe propionic acidemia lead to symptoms already seen in newborns. Symptoms include poor feeding, vomiting, dehydration, acidosis, low muscle tone (hypotonia), seizures, and lethargy. The effects of propionic acidemia quickly become life-threatening. Long-term complications can include intellectual disability, autism, chronic kidney disease, cardiomyopathy, and prolonged QTc interval. Pathophysiology In healthy individuals, enzyme propionyl-CoA carboxylase converts propiony ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Methylmalonic Acidemia
Methylmalonic acidemias, also called methylmalonic acidurias, are a group of inherited metabolic disorders, that prevent the body from properly breaking down proteins and fats. This leads to a buildup of a toxic level of methylmalonic acid in body liquids and tissues. Due to the disturbed branched-chain amino acids (BCAA) metabolism, they are among the ''classical'' organic acidemias. Methylmalonic acidemias have varying diagnoses, treatment requirements, and prognoses, which are determined by the specific genetic mutation causing the inherited form of the disorder. The first symptoms may begin as early as the first day of life or as late as adulthood. Symptoms can range from mild to life-threatening. Some forms can result in death if undiagnosed or left untreated. Methylmalonic acidemias are found with an equal frequency across ethnic boundaries. Signs and symptoms Depending on the affected gene(s) and mutation, the present symptoms can range from mild to life-threatening. * Ac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Maple Syrup Urine Disease
Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder that affects the body's ability to metabolize amino acids due to a deficiency in the activity of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex. It particularly affects the metabolism of amino acids leucine, isoleucine, and valine. With MSUD, the body is not able to properly break down these amino acids, therefore leading to the amino acids to build up in urine and become toxic. The condition gets its name from the distinctive sweet odor of affected infants' urine and earwax due to the buildup of these amino acids. Classification Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and severe form of this disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms. Variant forms of the disorder may become apparent only later in infa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
United States
The United States of America (USA), also known as the United States (U.S.) or America, is a country primarily located in North America. It is a federal republic of 50 U.S. state, states and a federal capital district, Washington, D.C. The 48 contiguous states border Canada to the north and Mexico to the south, with the semi-exclave of Alaska in the northwest and the archipelago of Hawaii in the Pacific Ocean. The United States asserts sovereignty over five Territories of the United States, major island territories and United States Minor Outlying Islands, various uninhabited islands in Oceania and the Caribbean. It is a megadiverse country, with the world's List of countries and dependencies by area, third-largest land area and List of countries and dependencies by population, third-largest population, exceeding 340 million. Its three Metropolitan statistical areas by population, largest metropolitan areas are New York metropolitan area, New York, Greater Los Angeles, Los Angel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biotin
Biotin (also known as vitamin B7 or vitamin H) is one of the B vitamins. It is involved in a wide range of metabolic processes, both in humans and in other organisms, primarily related to the utilization of fats, carbohydrates, and amino acids. The name ''biotin'', borrowed from the German , derives from the Ancient Greek word (; 'life') and the suffix "-in" (a suffix used in chemistry usually to indicate 'forming'). Biotin appears as a white, needle-like crystalline solid. Chemical description Biotin is classified as a heterocyclic compound, with a sulfur-containing tetrahydrothiophene ring fused to a ureido group. A C5-carboxylic acid side chain is appended to the former ring. The ureido ring, containing the −N−CO−N− group, serves as the carbon dioxide carrier in carboxylation reactions. Biotin is a coenzyme for five carboxylase enzymes, which are involved in the catabolism of amino acids and fatty acids, synthesis of fatty acids, and gluconeogenesis. Biotinylat ... [...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] |
Glycine
Glycine (symbol Gly or G; ) is an amino acid that has a single hydrogen atom as its side chain. It is the simplest stable amino acid. Glycine is one of the proteinogenic amino acids. It is encoded by all the codons starting with GG (GGU, GGC, GGA, GGG). Glycine disrupts the formation of alpha-helices in secondary protein structure. Its small side chain causes it to favor random coils instead. Glycine is also an inhibitory neurotransmitter – interference with its release within the spinal cord (such as during a '' Clostridium tetani'' infection) can cause spastic paralysis due to uninhibited muscle contraction. It is the only achiral proteinogenic amino acid. It can fit into both hydrophilic and hydrophobic environments, due to its minimal side chain of only one hydrogen atom. History and etymology Glycine was discovered in 1820 by French chemist Henri Braconnot when he hydrolyzed gelatin by boiling it with sulfuric acid. He originally called it "sugar of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
UK National Screening Committee
The UK National Screening Committee co-ordinates the screening of people for medical conditions within the United Kingdom. The committee advises ministers and the National Health Service in all four countries of the UK, and is accountable to the four Chief Medical Officers. The committee was established in 1996, with Sir Kenneth Calman (Chief Medical Officer for England 1991–1998) as its first chairman. Professor Sir Mike Richards (an oncologist, formerly National Cancer Director and Chief Inspector of Hospitals) has held the post since April 2022. The committee maintains a list of policies in relation to various types of screening, and attempts to balance the risks against the benefits in each case. Some policies say that screening should be provided for everyone or some people, others that screening is not recommended. Each year it publishes a report reviewing its work. In November 2013, the committee were involved in the testing of a new non-invasive prenatal blood test fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
