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Succinic Semialdehyde
Succinic semialdehyde (SSA) is a GABA and GHB metabolite. It is formed from GABA by the action of GABA transaminase (4-aminobutyrate aminotransferase) and further oxidised to become succinic acid, which enters TCA cycle. SSA is oxidized into succinic acid by the enzyme succinic semialdehyde dehydrogenase, which uses NAD+ as a cofactor. When the oxidation of succinic semialdehyde to succinic acid is impaired, accumulation of succinic semialdehyde takes place which leads to succinic semialdehyde dehydrogenase deficiency. In addition to the pathway involving GABA transaminase, gamma-hydroxybutyric acid (GHB) can also be metabolized to SSA via GHB dehydrogenase or by GHB transhydrogenase (D-2-hydroxyglutarate transhydrogenase). See also * Transaminase (aminotransferase) * Succinic semialdehyde dehydrogenase deficiency Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of the degradation pathway of the inhibitory neurotransmitter γ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MmHg
A millimetre of mercury is a manometric unit of pressure, formerly defined as the extra pressure generated by a column of mercury one millimetre high. Currently, it is defined as exactly , or approximately 1 torr = atmosphere = pascals.Council Directive 80/181/EEC of 20 December 1979 on the approximation of the laws of the Member States relating to units of measurement and on the repeal of Directive 71/354/EEC of the It is denoted mmHg or mm Hg ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aldehyde Dehydrogenase 5 Family, Member A1
Succinate-semialdehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ''ALDH5A1'' gene. Function This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD+-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter γ-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoform A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene and are the result of genetic differences. While many perform the same or similar biological roles, some isoforms have uniqu ...s have been identified for this gene. References External links * * Further reading * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carboxylic Acids
In organic chemistry, a carboxylic acid is an organic acid that contains a carboxyl group () attached to an Substituent, R-group. The general formula of a carboxylic acid is often written as or , sometimes as with R referring to an organyl group (e.g., alkyl, alkenyl, aryl), or hydrogen, or other groups. Carboxylic acids occur widely. Important examples include the amino acids and fatty acids. Deprotonation of a carboxylic acid gives a carboxylate anion. Examples and nomenclature Carboxylic acids are commonly identified by their trivial names. They often have the suffix ''-ic acid''. IUPAC-recommended names also exist; in this system, carboxylic acids have an ''-oic acid'' suffix. For example, butyric acid () is butanoic acid by IUPAC guidelines. For nomenclature of complex molecules containing a carboxylic acid, the carboxyl can be considered position one of the parent chain even if there are other substituents, such as 3-chloropropanoic acid. Alternately, it can be named ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aldehydes
In organic chemistry, an aldehyde () (lat. ''al''cohol ''dehyd''rogenatum, dehydrogenated alcohol) is an organic compound containing a functional group with the structure . The functional group itself (without the "R" side chain) can be referred to as an aldehyde but can also be classified as a formyl group. Aldehydes are a common motif in many chemicals important in technology and biology. Structure and bonding Aldehyde molecules have a central carbon atom that is connected by a double bond to oxygen, a single bond to hydrogen and another single bond to a third substituent, which is carbon or, in the case of formaldehyde, hydrogen. The central carbon is often described as being sp2- hybridized. The aldehyde group is somewhat polar. The bond length is about 120–122 picometers. Physical properties and characterization Aldehydes have properties that are diverse and that depend on the remainder of the molecule. Smaller aldehydes such as formaldehyde and acetaldehyde are soluble ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Succinic Semialdehyde Dehydrogenase Deficiency
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid, or GABA. The disorder has been identified in approximately 350 families, with a significant proportion being consanguineous families. The first case was identified in 1981 and published in a Dutch clinical chemistry journal that highlighted a number of neurological conditions such as delayed intellectual, motor, speech, and language as the most common manifestations. Later cases reported in the early 1990s began to show that hypotonia, hyporeflexia, seizures, and a nonprogressive ataxia were frequent clinical features as well. SSADH deficiency is caused by an enzyme deficiency in GABA degradation. Under normal conditions, SSADH works with the enzyme GABA transaminase to convert GABA to succinic acid. Succinic acid can then be utilized for energy production via the Krebs cycle. However, because of the d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transaminase
Transaminases or aminotransferases are enzymes that catalyze a transamination reaction between an amino acid and an α-keto acid. They are important in the synthesis of amino acids, which form proteins. Function and mechanism An amino acid contains an amino (NH2) group. A keto acid contains a ketone, keto (=O) group. In transamination, the NH2 group on one molecule is exchanged with the =O group on the other molecule. The amino acid becomes a keto acid, and the keto acid becomes an amino acid. Transaminases require the coenzyme pyridoxal phosphate, which is converted into pyridoxamine in the first half-reaction, when an amino acid is converted into a keto acid. Enzyme-bound pyridoxamine in turn reacts with pyruvate, oxaloacetate, or alpha-ketoglutarate, giving alanine, aspartic acid, or glutamic acid, respectively. Many transamination reactions occur in tissues, catalysed by transaminases specific for a particular amino/keto acid pair. The reactions are readily reversible, the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Succinic Semialdehyde Dehydrogenase Deficiency
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid, or GABA. The disorder has been identified in approximately 350 families, with a significant proportion being consanguineous families. The first case was identified in 1981 and published in a Dutch clinical chemistry journal that highlighted a number of neurological conditions such as delayed intellectual, motor, speech, and language as the most common manifestations. Later cases reported in the early 1990s began to show that hypotonia, hyporeflexia, seizures, and a nonprogressive ataxia were frequent clinical features as well. SSADH deficiency is caused by an enzyme deficiency in GABA degradation. Under normal conditions, SSADH works with the enzyme GABA transaminase to convert GABA to succinic acid. Succinic acid can then be utilized for energy production via the Krebs cycle. However, because of the d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cofactor (biochemistry)
A cofactor is a non-protein chemical compound or metallic ion that is required for an enzyme's role as a catalyst (a catalyst is a substance that increases the rate of a chemical reaction). Cofactors can be considered "helper molecules" that assist in biochemical transformations. The rates at which these happen are characterized in an area of study called enzyme kinetics. Cofactors typically differ from ligands in that they often derive their function by remaining bound. Cofactors can be classified into two types: inorganic ions and complex organic molecules called coenzymes. Coenzymes are mostly derived from vitamins and other organic essential nutrients in small amounts. (Some scientists limit the use of the term "cofactor" for inorganic substances; both types are included here.) Coenzymes are further divided into two types. The first is called a " prosthetic group", which consists of a coenzyme that is tightly (or even covalently and, therefore, permanently) bound to a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NAD+
Nicotinamide adenine dinucleotide (NAD) is a coenzyme central to metabolism. Found in all living cells, NAD is called a dinucleotide because it consists of two nucleotides joined through their phosphate groups. One nucleotide contains an adenine nucleobase and the other, nicotinamide. NAD exists in two forms: an oxidized and reduced form, abbreviated as NAD and NADH (H for hydrogen), respectively. In cellular metabolism, NAD is involved in redox reactions, carrying electrons from one reaction to another, so it is found in two forms: NAD is an oxidizing agent, accepting electrons from other molecules and becoming reduced; with H+, this reaction forms NADH, which can be used as a reducing agent to donate electrons. These electron transfer reactions are the main function of NAD. It is also used in other cellular processes, most notably as a substrate of enzymes in adding or removing chemical groups to or from proteins, in posttranslational modifications. Because of the importa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TCA Cycle
The citric acid cycle—also known as the Krebs cycle, Szent–Györgyi–Krebs cycle, or TCA cycle (tricarboxylic acid cycle)—is a series of chemical reaction, biochemical reactions that release the energy stored in nutrients through acetyl-CoA Redox, oxidation. The energy released is available in the form of Adenosine triphosphate, ATP. The Hans Krebs (biochemist), Krebs cycle is used by organisms that generate energy via Cellular respiration, respiration, either anaerobic respiration, anaerobically or aerobic respiration, aerobically (organisms that Fermentation, ferment use different pathways). In addition, the cycle provides precursor (chemistry), precursors of certain amino acids, as well as the reducing agent nicotinamide adenine dinucleotide, NADH, which are used in other reactions. Its central importance to many Metabolic pathway, biochemical pathways suggests that it was one of the earliest metabolism components. Even though it is branded as a "cycle", it is not necessa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ethanol
Ethanol (also called ethyl alcohol, grain alcohol, drinking alcohol, or simply alcohol) is an organic compound with the chemical formula . It is an Alcohol (chemistry), alcohol, with its formula also written as , or EtOH, where Et is the pseudoelement symbol for ethyl group, ethyl. Ethanol is a Volatility (chemistry), volatile, flammable, colorless liquid with a characteristic wine-like odor and pungent taste. As a psychoactive depressant, it is the active ingredient in alcoholic beverages, and the second most consumed drug globally behind caffeine. Ethanol is naturally produced by the fermentation process of sugars by yeasts or via petrochemical processes such as ethylene hydration. Historically it was used as a general anesthetic, and has modern medical applications as an antiseptic, disinfectant, solvent for some medications, and antidote for methanol poisoning and ethylene glycol poisoning. It is used as a chemical solvent and in the Chemical synthesis, synthesis of orga ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Succinic Acid
Succinic acid () is a dicarboxylic acid with the chemical formula (CH2)2(CO2H)2. In living organisms, succinic acid takes the form of an anion, succinate, which has multiple biological roles as a metabolic intermediate being converted into fumarate by the enzyme succinate dehydrogenase in complex 2 of the electron transport chain which is involved in making ATP, and as a signaling molecule reflecting the cellular metabolic state. Succinate is generated in mitochondria via the tricarboxylic acid (TCA) cycle. Succinate can exit the mitochondrial matrix and function in the cytoplasm as well as the extracellular space, changing gene expression patterns, modulating epigenetic landscape or demonstrating hormone-like signaling. As such, succinate links cellular metabolism, especially ATP formation, to the regulation of cellular function. Dysregulation of succinate synthesis, and therefore ATP synthesis, happens in some genetic mitochondrial diseases, such as Leigh syndrome, and Me ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
