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Galactose Epimerase Deficiency
Galactose epimerase deficiency, also known as GALE deficiency, Galactosemia III and UDP-galactose-4-epimerase deficiency, is a rare, autosome, autosomal dominance (genetics), recessive form of galactosemia associated with a deficiency of the enzyme ''galactose epimerase''. Symptoms and signs Symptoms of congenital Type III Galactosemia are apparent from birth, but vary in severity depending on whether the peripheral or generalized disease form is present. Symptoms may include: * Infantile jaundice * Infantile hypotonia * Dysmorphic features * Sensorineural hearing loss * Impaired growth * Cognitive deficiencies * Depletion of cerebellar Purkinje cells * Ovarian failure (POI) and hypertrophic hypergonadism * Liver failure * Renal failure * Splenomegaly * Cataracts Studies of Type III galactosemia symptoms are mostly descriptive, and precise pathogenic mechanisms remain unknown. This is largely due to a lack of functional animal models of classic galactosemia. The recent development ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Uridine Diphosphate Glucose
Uridine diphosphate glucose (uracil-diphosphate glucose, UDP-glucose) is a nucleotide sugar. It is involved in glycosyltransferase reactions in metabolism. Functions UDP-glucose is used in nucleotide sugar metabolism as an activated form of glucose, a substrate for enzymes called glucosyltransferases. UDP-glucose is a precursor of glycogen and can be converted into UDP-galactose and UDP-glucuronic acid, which can then be used as substrates by the enzymes that make polysaccharides containing galactose and glucuronic acid. UDP-glucose can also be used as a precursor of sucrose, lipopolysaccharides and glycosphingolipids. Components UDP-glucose consists of the pyrophosphate group, ribose, glucose, and uracil. See also * DNA * Nucleoside * Nucleotide * Oligonucleotide * RNA * TDP-glucose * Uracil * Uridine diphosphate Uridine diphosphate, abbreviated UDP, is an organic compound. It is an ester of pyrophosphoric acid with the nucleoside uridine. UDP consists of the pyrop ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epimerase And Racemase
Epimerases and racemases are isomerase enzymes that catalyze the inversion of stereochemistry in biological molecules. Racemases catalyze the stereochemical inversion around the asymmetric carbon atom in a substrate having only one center of asymmetry. Epimerases catalyze the stereochemical inversion of the configuration about an asymmetric carbon atom in a substrate having more than one center of asymmetry, thus interconverting epimers. Human epimerases include methylmalonyl-CoA epimerase, involved in the metabolic breakdown of the amino acids alanine, isoleucine, methionine and valine Valine (symbol Val or V) is an α-amino acid that is used in the biosynthesis of proteins. It contains an α- amino group (which is in the protonated −NH3+ form under biological conditions), an α- carboxylic acid group (which is in the deproton ..., and UDP-glucose 4-epimerase, which is used in the final step of galactose metabolism - catalyzing the reversible conversion of UDP-galactose to UD ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pentose Phosphate Pathway
The pentose phosphate pathway (also called the phosphogluconate pathway and the hexose monophosphate shunt or HMP shunt) is a metabolic pathway parallel to glycolysis. It generates NADPH and pentoses (five-carbon sugars) as well as ribose 5-phosphate, a precursor for the synthesis of nucleotides. While the pentose phosphate pathway does involve oxidation of glucose, its primary role is anabolic rather than catabolic. The pathway is especially important in red blood cells (erythrocytes). The reactions of the pathway were elucidated in the early 1950s by Bernard Horecker and co-workers. There are two distinct phases in the pathway. The first is the oxidative phase, in which NADPH is generated, and the second is the non-oxidative synthesis of five-carbon sugars. For most organisms, the pentose phosphate pathway takes place in the cytosol; in plants, most steps take place in plastids. Like glycolysis, the pentose phosphate pathway appears to have a very ancient evolutionary ori ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amita Manatunga
Amita Kalyanie Manatunga is a Sri Lankan biostatistician who works as a professor of biostatistics and bioinformatics at the Rollins School of Public Health, Emory University, where she is also affiliated with the Winship Cancer Institute. Her research interests include survival analysis, inter-rater reliability, environmental epidemiology, and medical imaging of the kidneys. Education and career Manatunga graduated from the University of Colombo in Sri Lanka with first class honors in 1978. She has master's degrees in statistics from Purdue University (1984) and the University of Rochester (1986). She completed her Ph.D. at the University of Rochester in 1990. Her dissertation, ''Inference for Multivariate Survival Distributions Generated by Stable Frailties'', was supervised by David Oakes. After finishing her doctorate, she joined the faculty at Indiana University as an assistant professor, and moved in 1994 to Emory. At Emory, she is a long-term and frequent collaborator with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glycogen Phosphorylase
Glycogen phosphorylase is one of the phosphorylase enzymes (). Glycogen phosphorylase catalyzes the rate-limiting step in glycogenolysis in animals by releasing glucose-1-phosphate from the terminal alpha-1,4-glycosidic bond. Glycogen phosphorylase is also studied as a model protein regulated by both reversible phosphorylation and allosteric effects. Mechanism Glycogen phosphorylase breaks up glycogen into glucose subunits (see also figure below): (α-1,4 glycogen chain)n + Pi ⇌ (α-1,4 glycogen chain)n-1 + α-D-glucose-1-phosphate. Glycogen is left with one fewer glucose molecule, and the free glucose molecule is in the form of glucose-1-phosphate. In order to be used for metabolism, it must be converted to glucose-6-phosphate by the enzyme phosphoglucomutase. Although the reaction is reversible in vitro, within the cell the enzyme only works in the forward direction as shown below because the concentration of inorganic phosphate is much higher than that of gluco ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phosphoglucomutase
Phosphoglucomutase () is an enzyme that transfers a phosphate group on an α-D-glucose monomer from the 1 to the 6 position in the forward direction or the 6 to the 1 position in the reverse direction. More precisely, it facilitates the interconversion of glucose 1-phosphate and glucose 6-phosphate. Function Role in glycogenolysis After glycogen phosphorylase catalyzes the phosphorolytic cleavage of a glucosyl residue from the glycogen polymer, the freed glucose has a phosphate group on its 1-carbon. This glucose 1-phosphate molecule is not itself a useful metabolic intermediate, but phosphoglucomutase catalyzes the conversion of this glucose 1-phosphate to glucose 6-phosphate (see below for the mechanism of this reaction). Glucose 6-phosphate’s metabolic fate depends on the needs of the cell at the time it is generated. If the cell is low on energy, then glucose 6-phosphate will travel down the glycolytic pathway, eventually yielding two molecules of adenosine tripho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Complete Galactose Metabolism
Complete may refer to: Logic * Completeness (logic) * Completeness of a theory, the property of a theory that every formula in the theory's language or its negation is provable Mathematics * The completeness of the real numbers, which implies that there are no "gaps" in the real numbers * Complete metric space, a metric space in which every Cauchy sequence converges * Complete uniform space, a uniform space where every Cauchy net in converges (or equivalently every Cauchy filter converges) * Complete measure, a measure space where every subset of every null set is measurable * Completion (algebra), at an ideal * Completeness (cryptography) * Completeness (statistics), a statistic that does not allow an unbiased estimator of zero * Complete graph, an undirected graph in which every pair of vertices has exactly one edge connecting them * Complete tree (abstract data type), a tree with every level filled, except possibly the last * Complete category, a category ''C'' where every di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Specificity Constant
In the field of biochemistry, the specificity constant (also called kinetic efficiency or k_/K_), is a measure of how efficiently an enzyme converts substrates into products. A comparison of specificity constants can also be used as a measure of the preference of an enzyme for different substrates (i.e., substrate specificity). The higher the specificity constant, the more the enzyme "prefers" that substrate. The following equation, known as the Michaelis–Menten model, is used to describe the kinetics of enzymes: : + S _fk_r] ES -> _ + P where E, S, ES, and P represent enzyme, substrate, enzyme–substrate complex, and product, respectively. The symbols k_f, k_r, and k_\mathrm denote the rate constants for the "forward" binding and "reverse" unbinding of substrate, and for the "catalytic" conversion of substrate into product, respectively. The Michaelis constant in turn is defined as follows: : K_ = \frac The Michaelis constant is equal to the substrate concentration a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Turnover Number
In chemistry, the term "turnover number" has two distinct meanings. In enzymology, the turnover number () is defined as the limiting number of chemical conversions of substrate molecules per second that a single active site will execute for a given enzyme concentration for enzymes with two or more active sites. For enzymes with a single active site, is referred to as the catalytic constant. It can be calculated from the limiting reaction rate and catalyst site concentration as follows: k_\mathrm = \frac (See Michaelis–Menten kinetics). In other chemical fields, such as organometallic catalysis, turnover number (TON) has a different meaning: the number of moles of substrate that a mole of catalyst can convert before becoming inactivated: \mathrm = \frac An ideal catalyst would have an infinite turnover number in this sense, because it would never be consumed. The term turnover frequency (TOF) is used to refer to the turnover per unit time, equivalent to the meaning o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive - En
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 chromosom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
