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Branched-chain Keto Acid Dehydrogenase Kinase Deficiency
Branched-chain keto acid dehydrogenase kinase deficiency (BCKDK deficiency) is a disease resulting from mutations of the BCKDK gene. Patients with BCKDK deficiency have low levels of Branched-chain amino acid, branched chain amino acids (BCAA) in their organism due to accelerated breakdown of these essential amino acids. This results in delayed brain development, which may present as intellectual disability and Autism spectrum, autism spectrum disorder. Patients may suffer from epileptic seizure. Signs and symptoms BCKDK deficit disease symptoms may include autism, intellectual disability and Developmental disability, developmental delay. R.Constante, Juliana et al. reported a list of symptoms in a study of 20 cases. Those symptoms included: neurodevelopmental delay, gross motor function impairment, intellectual disability, language impairment, epilepsy and Developmental coordination disorder, clumsiness, and also microcephaly, non present at birth. Cause Diagnosis Treatment C ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy
Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activity in the brain that can cause a variety of symptoms, ranging from brief lapses of awareness or muscle jerks to prolonged convulsions. These episodes can result in physical injuries, either directly, such as broken bones, or through causing accidents. The diagnosis of epilepsy typically requires at least two unprovoked seizures occurring more than 24 hours apart. In some cases, however, it may be diagnosed after a single unprovoked seizure if clinical evidence suggests a high risk of recurrence. Isolated seizures that occur without recurrence risk or are provoked by identifiable causes are not considered indicative of epilepsy. The underlying cause is often unknown, but epilepsy can result from brain injury, stroke, infections, Brain tumor, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Diseases And Disorders
Genetic may refer to: *Genetics, in biology, the science of genes, heredity, and the variation of organisms **Genetic, used as an adjective, refers to genes ***Genetic disorder, any disorder caused by a genetic mutation, whether inherited or de novo ***Genetic mutation, a change in a gene ****Heredity, genes and their mutations being passed from parents to offspring **Genetic recombination, refers to the recombining of alleles resulting in a new molecule of DNA *Genetic relationship (linguistics), in linguistics, a relationship between two languages with a common ancestor language *Genetic algorithm In computer science and operations research, a genetic algorithm (GA) is a metaheuristic inspired by the process of natural selection that belongs to the larger class of evolutionary algorithms (EA). Genetic algorithms are commonly used to g ..., in computer science, a kind of search technique modeled on evolutionary biology See also * Genetic memory (other) {{disam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
OMIM
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Isoleucine
Isoleucine (symbol Ile or I) is an α-amino acid that is used in the biosynthesis of proteins. It contains an α-amino group (which is in the protonated −NH form under biological conditions), an α-carboxylic acid group (which is in the deprotonated −COO− form under biological conditions), and a hydrocarbon side chain with a branch (a central carbon atom bound to three other carbon atoms). It is classified as a non-polar, uncharged (at physiological pH), branched-chain, aliphatic amino acid. It is essential in humans, meaning the body cannot synthesize it. Essential amino acids are necessary in the human diet. In plants isoleucine can be synthesized from threonine and methionine. In plants and bacteria, isoleucine is synthesized from a pyruvate employing leucine biosynthesis enzymes. It is encoded by the codons AUU, AUC, and AUA. Metabolism Biosynthesis In plants and microorganisms, isoleucine is synthesized from pyruvate and alpha-ketobutyrate. This pathway ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leucine
Leucine (symbol Leu or L) is an essential amino acid that is used in the biosynthesis of proteins. Leucine is an α-amino acid, meaning it contains an α-amino group (which is in the protonated −NH3+ form under biological conditions), an α-Carboxylic acid, carboxylic acid group (which is in the deprotonated −COO− form under biological conditions), and a side chain Isobutyl, isobutyl group, making it a Chemical polarity, non-polar Aliphatic compound, aliphatic amino acid. It is Essential amino acid, essential in humans, meaning the body cannot synthesize it; it must be obtained from the diet. Human dietary sources are foods that contain protein, such as meats, dairy products, soy products, and beans and other legumes. It is genetic code, encoded by the codons UUA, UUG, CUU, CUC, CUA, and CUG. Leucine is named after the Greek language, Greek word for "white": ''λευκός'' (''leukós'', "white"), after its common appearance as a white powder, a property it shares with many ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clumsiness
Clumsy or clumsiness may refer to: Behaviour *Accident-proneness *Developmental coordination disorder, a motor skills disorder which brings about chronic clumsiness Music * ''Clumsy'' (Our Lady Peace album), 1997 ** "Clumsy" (Our Lady Peace song) * ''Clumsy'' (Samiam album), 1994 * "Clumsy" (Fergie song), 2007 * "Clumsy" (Britney Spears song), 2016 *"Clumsy", a song by All Time Low from ''Wake Up, Sunshine ''Wake Up, Sunshine'' is the eighth studio album by American rock band All Time Low. It was released on April 3, 2020, and is their second release with Fueled by Ramen following '' Last Young Renegade'' in 2017. The album's fourth and final sin ...'', 2020 Literature *''Clumsy'', a 2002 graphic novel by Jeffrey Brown {{Disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Motor Functions
Motor control is the regulation of movements in organisms that possess a nervous system. Motor control includes conscious voluntary movements, subconscious muscle memory and involuntary reflexes, as well as instinctual taxes. To control movement, the nervous system must integrate multimodal sensory information (both from the external world as well as proprioception) and elicit the necessary signals to recruit muscles to carry out a goal. This pathway spans many disciplines, including multisensory integration, signal processing, coordination, biomechanics, and cognition, and the computational challenges are often discussed under the term sensorimotor control. Successful motor control is crucial to interacting with the world to carry out goals as well as for posture, balance, and stability. Some researchers (mostly neuroscientists studying movement, such as Daniel Wolpert and Randy Flanagan) argue that motor control is the reason brains exist at all. Neural control of muscle ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hospital Sant Joan De Déu Barcelona
Hospital Sant Joan de Déu Barcelona is a teaching hospital specializing in the fields of pediatrics, gynecology and obstetrics. It is located on Passeig Sant Joan de Déu in Esplugues de Llobregat, a municipality bordering Barcelona, Catalonia (Spain). It is a privately owned center concerted by the Catalan Health Service which belongs to the Hospitaller Order of St. John of God, religious organization that manages nearly 300 health centers over the world, one of which is St John of God Hospital Sierra Leone. The center has 362 beds and 12 operating rooms. It employs more than 1,200 professionals and attends more than 4,000 births and 130,000 emergencies annually, in addition to recording 26,000 admissions and performing 13,000 surgeries. History Hospital Sant Joan de Déu was founded in 1867. In 1973 it was a concerted by the public health service and in 1983 became part of the Public Hospital Network. Since 2009, the hospital is associated with the National Association of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microcephaly
Microcephaly (from Neo-Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Brain development is often affected; people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infections, can a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Developmental Coordination Disorder
Developmental coordination disorder (DCD), also known as developmental motor coordination disorder, developmental dyspraxia, or simply dyspraxia (from Ancient Greek ''praxis'' 'activity'), is a neurodevelopmental disorder characterized by impaired coordination of physical movements as a result of brain messages not being accurately transmitted to the body. Deficits in fine or gross motor skills movements interfere with activities of daily living. It is often described as disorder in skill acquisition, where the learning and execution of coordinated motor skills is substantially below that expected given the individual's chronological age. Difficulties may present as clumsiness, slowness and inaccuracy of performance of motor skills (e.g., catching objects, using cutlery, handwriting, riding a bike, use of tools or participating in team sports or swimming). It is often accompanied by difficulty with organisation and/or problems with attention, working memory and time management ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
