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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. However, the methylmalonic acid levels exceed those of malonic acid. CMAMMA is not only an organic aciduria but also a defect of mitochondrial fatty acid synthesis (mtFAS). 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 * speec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Metabolic Disease
A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are autosomal recessive. Signs and symptoms Some of the symptoms that can occur with metabolic disorders are lethargy, weight loss, jaundice and seizures. The symptoms expressed would vary with the type of metabolic disorder. There are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms. Causes Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency. These diseases, of which there are many subtypes, are known as inborn errors of metabolism. Metabolic diseases can also occur when the liver or pancrea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Cardiomyopathy
Cardiomyopathy is a group of primary diseases of the heart muscle. Early on there may be few or no symptoms. As the disease worsens, shortness of breath, feeling tired, and swelling of the legs may occur, due to the onset of heart failure. An irregular heart beat and fainting may occur. Those affected are at an increased risk of sudden cardiac death. As of 2013, cardiomyopathies are defined as "disorders characterized by morphologically and functionally abnormal myocardium in the absence of any other disease that is sufficient, by itself, to cause the observed phenotype." Types of cardiomyopathy include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular dysplasia, and Takotsubo cardiomyopathy (broken heart syndrome). In hypertrophic cardiomyopathy the heart muscle enlarges and thickens. In dilated cardiomyopathy the ventricles enlarge and weaken. In restrictive cardiomyopathy the ventricle stiffens. In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Acyl-CoA Synthetase
Acyl-CoA synthetases, also known as acyl-CoA ligases, are enzymes that "activate" fatty acids by thioesterification to coenzyme A. It represents the initial step of fatty acid metabolism so that fatty acids can participate in catabolic and anabolic pathways. Among these are, for example, the synthesis of triacylglycerol, phospholipids, plasmalogens, sphingolipids, the degradation of fatty acids for energy production, the conversion to alcohols or aldehydes, the elongation of fatty acids, the insertion and removal of double bonds or the covalent binding to proteins. The members of this family mainly activate fatty acids, but there are also members that activate other substrates instead, such as AACS, which activates the keto acid acetoacetic acid, or ACSF3, which activates the dicarboxylic acids methylmalonic acid and malonic acid. Reaction Acyl-CoA synthetases catalyze fatty acid activation, which consists of 2 steps. First, an ATP-dependent adenylation and release of pyro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Prevalence
In epidemiology, prevalence is the proportion of a particular population found to be affected by a medical condition (typically a disease or a risk factor such as smoking or seatbelt use) at a specific time. It is derived by comparing the number of people found to have the condition with the total number of people studied and is usually expressed as a fraction, a percentage, or the number of cases per 10,000 or 100,000 people. Prevalence is most often used in questionnaire studies. Difference between prevalence and incidence Prevalence is the number of disease cases ''present ''in a particular population at a given time, whereas incidence is the number of new cases that ''develop ''during a specified time period. Prevalence answers "How many people have this disease right now?" or "How many people have had this disease during this time period?". Incidence answers "How many people acquired the disease uring a specified time period". However, mathematically, prevalence is propor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Minor Allele Frequency
Minor allele frequency (MAF) is the frequency at which the ''second most common'' allele occurs in a given population. They play a surprising role in heritability since MAF variants which occur only once, known as "singletons", drive an enormous amount of selection. Single nucleotide polymorphisms (SNPs) with a minor allele frequency of 0.05 (5%) or greater were targeted by the HapMap project. MAF is widely used in population genetics studies because it provides information to differentiate between common and rare variants in the population. As an example, a 2015 study sequenced the whole genomes of Sardinian individuals. The authors classified the variants found in the study in three classes according to their MAF. It was observed that rare variants (MAF 0.05) in this population. Interpreting MAF data 1. Introduce the reference of a SNP of interest, as an example: rs429358, in a database (dbSNP or other). 2. Find MAF/MinorAlleleCount link. MAF/MinorAlleleCount: C=0.1506/75 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Compound Heterozygous
Compound may refer to: Architecture and built environments * Compound (enclosure), a cluster of buildings having a shared purpose, usually inside a fence or wall ** Compound (fortification), a version of the above fortified with defensive structures * Compound (migrant labour), a hostel for migrant workers such as those historically connected with mines in South Africa * The Compound, an area of Palm Bay, Florida, US * Komboni or compound, a type of slum in Zambia Government and law * Composition (fine), a legal procedure in use after the English Civil War ** Committee for Compounding with Delinquents, an English Civil War institution that allowed Parliament to compound the estates of Royalists * Compounding treason, an offence under the common law of England * Compounding a felony, a previous offense under the common law of England Linguistics * Compound (linguistics), a word that consists of more than one radical element * Compound sentence (linguistics), a type of senten ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Homozygous
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Exon
An exon is any part of a gene that will form a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing. The term ''exon'' refers to both the DNA sequence within a gene and to the corresponding sequence in RNA transcripts. In RNA splicing, introns are removed and exons are covalently joined to one another as part of generating the mature RNA. Just as the entire set of genes for a species constitutes the genome, the entire set of exons constitutes the exome. History The term ''exon'' is a shortening of the phrase ''expressed region'' and was coined by American biochemist Walter Gilbert in 1978: "The notion of the cistron... must be replaced by that of a transcription unit containing regions which will be lost from the mature messengerwhich I suggest we call introns (for intragenic regions)alternating with regions which will be expressedexons." This definition was originally made for protein-coding transcripts that are spliced before b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Locus (genetics)
In genetics, a locus (: loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of Human genome#Coding sequences (protein-coding genes), protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000. Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus. Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygote, homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygote, heterozygous. The ordered list of loci known for a particular genome is called a gene map. Gene mapping is the process of determining the specific locus or loci responsible for producing a particular phenotype or biological trait. Association ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Chromosome 16
Chromosome 16 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 16 spans about 90 million base pairs (the building material of DNA) and represents just under 3% of the total DNA in cells. Genes Number of genes The following are some of the gene count estimates of human chromosome 16. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 16. For complete list, see the link in the infobox on the right. Diseases and disorders *Attention deficit hyperactivity disorder (ADHD) *Asperger synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
ACSF3
Acyl-CoA synthetase family member 3 is an enzyme that in humans is encoded by the ''ACSF3'' gene. The enzyme belongs to the Acyl-CoA synthetase, acyl-CoA synthetase family. Structure The ''ACSF3'' gene is located on the Chromosome 16, 16th chromosome, with its specific location being 16q24.3. The gene contains 17 Exon, exons. ''ACSF3'' encodes a 64.1 kDa protein that is composed of 576 Amino acid, amino acids; 20 Peptide, peptides have been observed through mass spectrometry data. Function This gene encodes a member of the Acyl-CoA synthetase, acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between Fatty acid, fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for Malonic acid, malonate and Methylmalonic acid, methylmalonate and possesses Malonate—CoA ligase, malonyl-CoA synthetase activity: :Adenosine triphosphate, ATP + Malonic acid, malonate + Coenzyme A, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Inborn Error Of Metabolism
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrate (biochemistry), substrates) into others (Product (chemistry), products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. Another term used to describe these disorders is "enzymopathies". This term was created following the study of Biochemical Processes, biodynamic enzymology, a science based on the study of the enzymes and their products. Finally, ''inborn errors of metabolism'' were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
