|
3-Methylglutaconic Aciduria
3-Methylglutaconic aciduria (MGA) is any of at least five metabolic disorders that impair the body's ability to make energy in the mitochondria. As a result of this impairment, 3-methylglutaconic acid and 3-methylglutaric acid build up and can be detected in the urine. 3-Methylglutaconic acid is an organic acid. The double carboxylic acid functions are the principal cause of the strength of this acid. 3-methylglutaconic acid can be detected by the presence of the acid function and the double connection that involves reactivity with some specific substances. Genetics The inheritance patterns of 3-methylglutaconic aciduria differ depending on the gene involved. * Types I and III are inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder. * Type II is inherite ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
3-Methylglutaconic Acid
3-Methylglutaconic acid is a glutarate which builds up in the urine in 3-methylglutaconic aciduria or 3-hydroxy-3-methylglutaric aciduria. See also * Glutaconic acid ''trans''-Glutaconic acid is an organic compound with formula HO2CCH=CHCH2CO2H. This dicarboxylic acid exists as a colorless solid and is related to the saturated chemical glutaric acid, HO2CC(CH2)3CO2H. Esters and salts of glutaconic acid are ... References * External links 2TMS Spectrum {{DEFAULTSORT:Methylglutaconic acid, 3- Dicarboxylic acids ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amino Acid
Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although hundreds of amino acids exist in nature, by far the most important are the alpha-amino acids, which comprise proteins. Only 22 alpha amino acids appear in the genetic code. Amino acids can be classified according to the locations of the core structural functional groups, as Alpha and beta carbon, alpha- , beta- , gamma- or delta- amino acids; other categories relate to Chemical polarity, polarity, ionization, and side chain group type (aliphatic, Open-chain compound, acyclic, aromatic, containing hydroxyl or sulfur, etc.). In the form of proteins, amino acid '' residues'' form the second-largest component (water being the largest) of human muscles and other tissues. Beyond their role as residues in proteins, amino acids participate in a number of processes such as neurotransmitter transport and biosynthesis. It is thought that they played a key role in enabling life ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Iraq
Iraq,; ku, عێراق, translit=Êraq officially the Republic of Iraq, '; ku, کۆماری عێراق, translit=Komarî Êraq is a country in Western Asia. It is bordered by Turkey to Iraq–Turkey border, the north, Iran to Iran–Iraq border, the east, the Persian Gulf and Kuwait to the southeast, Saudi Arabia to the south, Jordan to Iraq–Jordan border, the southwest and Syria to Iraq–Syria border, the west. The Capital city, capital and largest city is Baghdad. Iraq is home to diverse ethnic groups including Iraqi Arabs, Kurds, Iraqi Turkmen, Turkmens, Assyrian people, Assyrians, Armenians in Iraq, Armenians, Yazidis, Mandaeans, Iranians in Iraq, Persians and Shabaks, Shabakis with similarly diverse Geography of Iraq, geography and Wildlife of Iraq, wildlife. The vast majority of the country's 44 million residents are Muslims – the notable other faiths are Christianity in Iraq, Christianity, Yazidism, Mandaeism, Yarsanism and Zoroastrianism. The official langu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jewish
Jews ( he, יְהוּדִים, , ) or Jewish people are an ethnoreligious group and nation originating from the Israelites Israelite origins and kingdom: "The first act in the long drama of Jewish history is the age of the Israelites""The people of the Kingdom of Israel and the ethnic and religious group known as the Jewish people that descended from them have been subjected to a number of forced migrations in their history" and Hebrews of historical History of ancient Israel and Judah, Israel and Judah. Jewish ethnicity, nationhood, and religion are strongly interrelated, "Historically, the religious and ethnic dimensions of Jewish identity have been closely interwoven. In fact, so closely bound are they, that the traditional Jewish lexicon hardly distinguishes between the two concepts. Jewish religious practice, by definition, was observed exclusively by the Jewish people, and notions of Jewish peoplehood, nation, and community were suffused with faith in the Jewish God, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Speech Delay
Speech delay, also known as alalia, refers to a delay in the development or use of the mechanisms that produce speech. Speech – as distinct from language – is the actual process of making sounds, using such organs and structures as the lungs, vocal cords, mouth, tongue, teeth, etc. Language delay refers to a delay in the development or use of the knowledge of language. Because language and speech are two independent stages, they may be individually delayed. For example, a child may be delayed in speech (i.e., unable to produce intelligible speech sounds), but not delayed in language. In this case, the child would be attempting to produce an age appropriate amount of language, but that language would be difficult or impossible to understand. Conversely, since a child with a language delay typically has not yet had the opportunity to produce speech sounds, it is likely to have a delay in speech as well. Signs and symptoms The warning signs of early speech delay are categori ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DNAJC19
Mitochondrial import inner membrane translocase subunit TIM14 is an enzyme that in humans is encoded by the ''DNAJC19'' gene on chromosome 3. TIM14 belongs to the DnaJ family, which has been involved in Hsp40/Hsp70 chaperone systems. As a mitochondrial chaperone, TIM14 functions as part of the TIM23 complex import motor to facilitate the import of nuclear-encoded proteins into the mitochondria. TIM14 also complexes with prohibitin complexes to regulate mitochondrial morphogenesis, and has been implicated in dilated cardiomyopathy with ataxia. Structure The ''DNAJC19'' gene is located on the q arm of chromosome 3 at position 26.33 and it spans 6,065 base pairs. The ''DNAJC19'' gene produces a 6.29 kDa protein composed of 59 amino acids. The protein encoded by the ''DNAJC19'' gene possesses an unusual structure compared to the rest of the DNAJ protein family. Notably, the DNAJ domain of TIM14 is located at the C-terminal rather than the N-terminal, and the transmembrane d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Apoptosis
Apoptosis (from grc, ἀπόπτωσις, apóptōsis, 'falling off') is a form of programmed cell death that occurs in multicellular organisms. Biochemical events lead to characteristic cell changes (morphology) and death. These changes include blebbing, cell shrinkage, nuclear fragmentation, chromatin condensation, DNA fragmentation, and mRNA decay. The average adult human loses between 50 and 70 billion cells each day due to apoptosis. For an average human child between eight and fourteen years old, approximately twenty to thirty billion cells die per day. In contrast to necrosis, which is a form of traumatic cell death that results from acute cellular injury, apoptosis is a highly regulated and controlled process that confers advantages during an organism's life cycle. For example, the separation of fingers and toes in a developing human embryo occurs because cells between the digits undergo apoptosis. Unlike necrosis, apoptosis produces cell fragments called apoptotic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Costeff Syndrome
Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the ''OPA3'' gene. It is typically associated with the onset of visual deterioration (optic atrophy) in early childhood followed by the development of movement problems and motor disability in later childhood, occasionally along with mild cases of cognitive deficiency. The disorder is named after Hanan Costeff, the doctor who first described the syndrome in 1989. Signs and symptoms The characteristic symptom of Costeff syndrome is the onset of progressively worsening eyesight caused by degeneration of the optic nerve (optic atrophy) within the first few years of childhood, with the majority of affected individuals also developing motor disabilities later in childhood. Occasionally, people with Costeff syndrome may also experience mild cognitive disability. It is type of 3-methylglutaconic aciduria, the hallmark of which is an increased level in the urinary concentrations of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
OPA3
Optic atrophy 3 protein is a protein that in humans is encoded by the ''OPA3'' gene. Clinical significance Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the ''OPA3'' gene. In addition these mutations disrupt the production of non-shivering heat, as indicated by the dramatic decrease in surface body temperature. See also * 3-Methylglutaconic aciduria 3-Methylglutaconic aciduria (MGA) is any of at least five metabolic disorders that impair the body's ability to make energy in the mitochondria. As a result of this impairment, 3-methylglutaconic acid and 3-methylglutaric acid build up and can be ... References Further reading * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on 3-Methylglutaconic Aciduria Type 3 OMIM entries on 3-Methylglutaconic Aciduria Type 3 {{gene-19-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tafazzin
Tafazzin is a protein that in humans is encoded by the ''TAFAZZIN'' gene. Tafazzin is highly expressed in cardiac and skeletal muscle, and functions as a phospholipid-lysophospholipid transacylase (it belongs to phospholipid:diacylglycerol acyltransferases). It catalyzes remodeling of immature cardiolipin to its mature composition containing a predominance of tetralinoleoyl moieties. Several different isoforms of the tafazzin protein are produced from the ''TAFAZZIN'' gene. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. Most isoforms are found in all tissues, but some are found only in certain types of cells. Mutations in the ''TAFAZZIN'' gene have been associated with mitochondrial deficiency, Barth syndrome, dila ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Barth Syndrome
Barth syndrome (BTHS) is a rare but serious X-linked genetic disorder, caused by changes in phospholipid structure and metabolism. It may affect multiple body systems (though mainly characterized by pronounced pediatric-onset cardiomyopathy), and is potentially fatal. The syndrome is diagnosed almost exclusively in males. Presentation Though not always present, the cardinal characteristics of this multi-system disorder include: cardiomyopathy (dilated or hypertrophic, possibly with left ventricular noncompaction and/or endocardial fibroelastosis), neutropenia (chronic, cyclic, or intermittent), underdeveloped skeletal musculature and muscle weakness, growth delay, exercise intolerance, cardiolipin abnormalities, and 3-methylglutaconic aciduria. It can be associated with stillbirth. Barth Syndrome is manifested in a variety of ways at birth. A majority of patients are hypotonic at birth; show signs of cardiomyopathy within the first few months of life; and experience a decelerat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
