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Hereditary Fructose Intolerance
Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B. Individuals affected with HFI are asymptomatic until they ingest fructose, sucrose, or sorbitol. If fructose is ingested, the enzymatic block at aldolase B causes an accumulation of fructose-1-phosphate which, over time, results in the death of liver cells. This accumulation has downstream effects on gluconeogenesis and regeneration of adenosine triphosphate (ATP). Symptoms of HFI include vomiting, convulsions, irritability, poor feeding as a baby, hypoglycemia, jaundice, hemorrhage, hepatomegaly, hyperuricemia and potentially kidney failure. While HFI is not clinically a devastating condition, there are reported deaths in infants and children as a result of the metabolic consequences of HFI. Death in HFI is always associated with problems in diagnosis. HFI is an autosomal recessive condition caused by mutations in the ''ALDOB'' gene, located at 9q3 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fructose
Fructose, or fruit sugar, is a Ketose, ketonic monosaccharide, simple sugar found in many plants, where it is often bonded to glucose to form the disaccharide sucrose. It is one of the three dietary monosaccharides, along with glucose and galactose, that are absorbed by the gut directly into the blood of the portal vein during digestion. The liver then converts both fructose and galactose into glucose, so that dissolved glucose, known as blood sugar, is the only monosaccharide present in circulating blood. Fructose was discovered by French chemist Augustin-Pierre Dubrunfaut in 1847. The name "fructose" was coined in 1857 by the English chemist William Allen Miller. Pure, dry fructose is a sweet, white, odorless, crystalline solid, and is the most water-soluble of all the sugars. Fructose is found in honey, tree and vine fruits, flowers, Berry, berries, and most List of root vegetables, root vegetables. Commercially, fructose is derived from sugar cane, sugar beets, and maize. Hi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fructose-1-phosphate
Fructose-1-phosphate is a derivative of fructose. It is generated mainly by hepatic fructokinase but is also generated in smaller amounts in the small intestinal mucosa and proximal epithelium of the renal tubule. It is an important intermediate of glucose metabolism. Because fructokinase has a high Vmax fructose entering cells is quickly phosphorylated to fructose 1-phosphate."Marks A. Basic Medical Biochemistry: a clinical approach, 3rd ed. p.540 In this form it is usually accumulated in the liver until it undergoes further conversion by aldolase B (the rate limiting enzyme of fructose metabolism). Aldolase B converts it into glyceraldehyde and dihydroxyacetone phosphate (DHAP). Glyceraldehyde is then phosphorylated by triose kinase to glyceraldehyde 3-phosphate. Metabolism of fructose thus essentially results in intermediates of glycolysis. This means that fructose has the same fate as glucose after it gets metabolised. The final product of glycolysis (pyruvate) may then undergo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Maltose
} Maltose ( or ), also known as maltobiose or malt sugar, is a disaccharide formed from two units of glucose joined with an α(1→4) bond. In the isomer isomaltose, the two glucose molecules are joined with an α(1→6) bond. Maltose is the two-unit member of the amylose homologous series, the key structural motif of starch. When beta-amylase breaks down starch, it removes two glucose units at a time, producing maltose. An example of this reaction is found in germinating seeds, which is why it was named after malt. Unlike sucrose, it is a reducing sugar. History Maltose was discovered by Augustin-Pierre Dubrunfaut, although this discovery was not widely accepted until it was confirmed in 1872 by Irish chemist and brewer Cornelius O'Sullivan. Its name comes from malt, combined with the suffix ' -ose' which is used in names of sugars. Structure and nomenclature Carbohydrates are generally divided into monosaccharides, oligosaccharides, and polysaccharides depending on the nu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glucose
Glucose is a simple sugar with the molecular formula . Glucose is overall the most abundant monosaccharide, a subcategory of carbohydrates. Glucose is mainly made by plants and most algae during photosynthesis from water and carbon dioxide, using energy from sunlight, where it is used to make cellulose in cell walls, the most abundant carbohydrate in the world. In energy metabolism, glucose is the most important source of energy in all organisms. Glucose for metabolism is stored as a polymer, in plants mainly as starch and amylopectin, and in animals as glycogen. Glucose circulates in the blood of animals as blood sugar. The naturally occurring form of glucose is -glucose, while -glucose is produced synthetically in comparatively small amounts and is less biologically active. Glucose is a monosaccharide containing six carbon atoms and an aldehyde group, and is therefore an aldohexose. The glucose molecule can exist in an open-chain (acyclic) as well as ring (cyclic) form. Gluco ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sequela
A sequela (, ; usually used in the plural, sequelae ) is a pathological condition resulting from a disease, injury, therapy, or other trauma. Derived from the Latin word, meaning “sequel”, it is used in the medical field to mean a complication or condition following a prior illness or disease. A typical sequela is a chronic complication of an acute condition—in other words, a long-term effect of a temporary disease or injury—which follows immediately from the condition. Sequelae differ from late effects, which can appear long after—even several decades after—the original condition has resolved. In general, non-medical usage, the terms ''sequela'' and ''sequelae'' mean consequence and consequences. Examples and uses Chronic kidney disease, for example, is sometimes a sequela of diabetes; "chronic constipation" or more accurately "obstipation" (that is, inability to pass stool or gas) is a sequela to an intestinal obstruction; and neck pain is a common sequela of whi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liver Biopsy
Liver biopsy is the biopsy (removal of a small sample of tissue) from the liver. It is a medical test that is done to aid diagnosis of liver disease, to assess the severity of known liver disease, and to monitor the progress of treatment. Medical uses Liver biopsy is often required for the diagnosis of a liver problem (jaundice, abnormal blood tests) where blood tests, such as hepatitis A serology, have not been able to identify a cause. It is also required if hepatitis is possibly the result of medication, but the exact nature of the reaction is unclear. Alcoholic liver disease and tuberculosis of the liver may be diagnosed through biopsy. Direct biopsy of tumors of the liver may aid the diagnosis, although this may be avoided if the source is clear (e.g. spread from previously known colorectal cancer). Liver biopsy will likely remain particularly important in the diagnosis of unexplained liver disease. Non-invasive tests for liver fibrosis in alcoholic, nonalcoholic and viral li ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme Assay
Enzyme assays are laboratory methods for measuring enzymatic activity. They are vital for the study of enzyme kinetics and enzyme inhibition. Enzyme units The quantity or concentration of an enzyme can be expressed in molar amounts, as with any other chemical, or in terms of activity in enzyme units. Enzyme activity Enzyme activity is a measure of the quantity of active enzyme present and is thus dependent on various physical conditions, ''which should be specified''. It is calculated using the following formula: :\operatorname=\operatorname=\operatorname\times\operatorname where :\operatorname= Enzyme activity :\operatorname= Moles of substrate converted per unit time :\operatorname= Rate of the reaction :\operatorname= Reaction volume The SI unit is the katal, 1 katal = 1 mol s−1 (mole per second), but this is an excessively large unit. A more practical and commonly used value is enzyme unit (U) = 1 μmol min−1 (micromole per minute). 1 U corresponds to 16.67 nano ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Allele
An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chromosomal or genomic location of a gene or any other genetic element is called a locus (plural: loci) and alternative DNA sequences at a locus are called alleles." The simplest alleles are single nucleotide polymorphisms (SNP). but they can also be insertions and deletions of up to several thousand base pairs. Popular definitions of 'allele' typically refer only to different alleles within genes. For example, the ABO blood grouping is controlled by the ABO gene, which has six common alleles (variants). In population genetics, nearly every living human's phenotype for the ABO gene is some combination of just these six alleles. Most alleles observed result in little or no change in the function of the gene product it codes for. However, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genomic DNA
Genomic deoxyribonucleic acid (abbreviated as gDNA) is chromosomal DNA, in contrast to extra-chromosomal DNAs like plasmids. Most organisms have the same genomic DNA in every cell; however, only certain genes are active in each cell to allow for cell function and differentiation within the body. The genome of an organism (encoded by the genomic DNA) is the (biological) information of heredity which is passed from one generation of organism to the next. That genome is transcribed to produce various RNAs, which are necessary for the function of the organism. Precursor mRNA (pre-mRNA) is transcribed by RNA polymerase II in the nucleus. pre-mRNA is then processed by splicing to remove introns, leaving the exons in the mature messenger RNA (mRNA). Additional processing includes the addition of a 5' cap and a poly(A) tail to the pre-mRNA. The mature mRNA may then be transported to the cytosol and translated by the ribosome into a protein. Other types of RNA include ribosomal RNA (rR ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homozygote
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each of their two sets of homologous chromosomes except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes may be mismatched as part of a chromosomal sex-determination system. If both alleles of a diploid organism are the same, the organism is homozygous at that locus. If they are different, the organism is heterozygous at that locus. If one allele is missing, it is hemizygous, and, if both alleles are missing, it is nullizygous. The DNA sequence of a gene often varies from one individual to another. These gene variants are called alleles. While some gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glyceraldehyde
Glyceraldehyde (glyceral) is a triose monosaccharide with chemical formula C3 H6 O3. It is the simplest of all common aldoses. It is a sweet, colorless, crystalline solid that is an intermediate compound in carbohydrate metabolism. The word comes from combining glycerol and aldehyde, as glyceraldehyde is glycerol with one alcohol group oxidized to an aldehyde. Structure Glyceraldehyde has one chiral center and therefore exists as two different enantiomers with opposite optical rotation: * In the nomenclature, either from Latin ''Dexter'' meaning "right", or from Latin ''Laevo'' meaning "left" * In the R/S nomenclature, either R from Latin ''Rectus'' meaning "right", or S from Latin ''Sinister'' meaning "left" While the optical rotation of glyceraldehyde is (+) for ''R'' and (−) for ''S'', this is not true for all monosaccharides. The stereochemical configuration can only be determined from the chemical structure, whereas the optical rotation can only be determined em ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Benign
Malignancy () is the tendency of a medical condition to become progressively worse. Malignancy is most familiar as a characterization of cancer. A ''malignant'' tumor contrasts with a non-cancerous benign tumor, ''benign'' tumor in that a malignancy is not self-limited in its growth, is capable of invading into adjacent tissues, and may be capable of spreading to distant tissues. A benign tumor has none of those properties. Malignancy in cancers is characterized by anaplasia, invasiveness, and metastasis. Malignant tumors are also characterized by genome instability, so that cancers, as assessed by whole genome sequencing, frequently have between 10,000 and 100,000 mutations in their entire genomes. Cancers usually show tumour heterogeneity, containing multiple subclones. They also frequently have reduced expression of DNA repair enzymes due to Epigenetics#DNA repair epigenetics in cancer, epigenetic methylation of DNA repair genes or altered MicroRNA#DNA repair and cancer, micr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
