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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] |
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] |
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] |
Phospholipid Metabolism Disorders
Phospholipids, are a class of lipids whose molecule has a hydrophile, hydrophilic "head" containing a phosphate group and two hydrophobic "tails" derived from fatty acids, joined by an Alcohol (chemistry), alcohol residue (usually a glycerol molecule). Marine phospholipids typically have omega-3 fatty acids Eicosapentaenoic acid, EPA and Docosahexaenoic acid, DHA integrated as part of the phospholipid molecule. The phosphate group can be modified with simple organic molecules such as choline, ethanolamine or serine. Phospholipids are a key component of all cell membranes. They can form lipid bilayers because of their amphiphilic characteristic. In eukaryotes, cell membranes also contain another class of lipid, sterol, interspersed among the phospholipids. The combination provides fluidity in two dimensions combined with mechanical strength against rupture. Purified phospholipids are produced commercially and have found applications in nanotechnology and materials science. The fi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial Disorders
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. A subclass of these diseases that have neuromuscular symptoms are known as mitochondrial myopathies. Types Examples of mitochondrial diseases include: * Mitochondrial myopathy * Diabetes mellitus and deafness (DAD) ** this combination at an early age can be due to mitochondrial disease ** Diabetes mellitus and deafness can be found together for other reasons * Leber's hereditary optic neuropathy (LHON) ** visual loss beginning in young adulthood ** eye disorder characterized by progressive loss of central v ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Behr Syndrome
Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay. Although it is an autosomal recessive disorder, heterozygotes may still manifest much attenuated symptoms. Autosomal dominant inheritance also being reported in a family. Recently a variant of OPA1 mutation with phenotypic presentation like Behr syndrome is also described. Some reported cases have been found to carry mutations in the OPA1, OPA3 or C12ORF65 genes which are known causes of pure optic atrophy or optic atrophy complicated by movement disorder. Signs and symptoms Onset : Early childhood Progression: Chronic progressive Clinical: Cerebellar ataxia plus syndrome / Optic Atrophy Plus Syndrome Ocular: Optic atrophy, nystagmus, scotoma, and bilateral retrobulbar neuritis. Other: Mental retardation, myoclonic epilepsy, spasticity, and posterior column sensory loss. Tremor i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Systemic Diseases With Ocular Manifestations
An ocular manifestation of a systemic disease is an eye condition that directly or indirectly results from a disease process in another part of the body. There are many diseases known to cause ocular or visual changes. Diabetes, for example, is the leading cause of new cases of blindness in those aged 20–74, with ocular manifestations such as diabetic retinopathy and macular edema affecting up to 80% of those who have had the disease for 15 years or more. Other diseases such as acquired immunodeficiency syndrome (AIDS) and hypertension are commonly found to have associated ocular symptoms. Systemic allergic diseases *Asthma * Atopic dermatitis *Atopic eczema * Hay fever *Urticaria *Vernal conjunctivitis Skin and mucous membrane diseases *Acne rosacea *Albinism * Atopic dermatitis *Behçet's disease *Cicatricial pemphigoid * Ehlers–Danlos syndrome *Epidermolysis bullosa *Erythema multiforme *Goltz–Gorlin syndrome *Ichthyosis *Incontinentia pigmenti *Nevus of Ota *Pemph ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Therapy
A therapy or medical treatment (often abbreviated tx, Tx, or Tx) is the attempted remediation of a health problem, usually following a medical diagnosis. As a rule, each therapy has indications and contraindications. There are many different types of therapy. Not all therapies are effective. Many therapies can produce unwanted adverse effects. ''Medical treatment'' and ''therapy'' are generally considered synonyms. However, in the context of mental health, the term ''therapy'' may refer specifically to psychotherapy. History Before the creating of therapy as a formal procedure, people told stories to one another to inform and assist about the world. The term "healing through words" was used over 3,500 years ago in Greek and Egyptian writing. The term psychotherapy was invented in the 19th century, and psychoanalysis was founded by Sigmund Freud under a decade later. Semantic field The words ''care'', ''therapy'', ''treatment'', and ''intervention'' overlap in a s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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] |
Variant Of Uncertain Significance
A variant of uncertain (or unknown) significance (VUS) is a genetic variant that has been identified through genetic testing but whose significance to the function or health of an organism is not known. Two related terms are "gene of uncertain significance" (GUS), which refers to a gene that has been identified through genome sequencing but whose connection to a human disease has not been established, and "insignificant mutation", referring to a gene variant that has no impact on the health or function of an organism. The term "variant' is favored in clinical practice over "mutation" because it can be used to describe an allele more precisely (i.e. without inherently connoting pathogenicity). When the variant has no impact on health, it is called a "benign variant". When it is associated with a disease, it is called a "pathogenic variant". A "pharmacogenomic variant" has an effect only when an individual takes a particular drug and therefore is neither benign nor pathogenic. A VUS is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene Expression
Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product that enables it to produce end products, protein or non-coding RNA, and ultimately affect a phenotype, as the final effect. These products are often proteins, but in non-protein-coding genes such as transfer RNA (tRNA) and small nuclear RNA (snRNA), the product is a functional non-coding RNA. Gene expression is summarized in the central dogma of molecular biology first formulated by Francis Crick in 1958, further developed in his 1970 article, and expanded by the subsequent discoveries of reverse transcription and RNA replication. The process of gene expression is used by all known life—eukaryotes (including multicellular organisms), prokaryotes (bacteria and archaea), and utilized by viruses—to generate the macromolecular machinery for life. In genetics, gene expression is the most fundamental level at which the genotype gives rise to the phenotype, '' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Single-nucleotide Polymorphism
In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold. For example, at a specific base position in the human genome, the G nucleotide may appear in most individuals, but in a minority of individuals, the position is occupied by an A. This means that there is a SNP at this specific position, and the two possible nucleotide variations – G or A – are said to be the alleles for this specific position. SNPs pinpoint differences in our susceptibility to a wide range of diseases, for example age-related macular degeneration (a common SNP in the CFH gene is associated with increased risk of the disease) or nonalcoholic fatty liver disease (a SNP in the PNPLA3 gene is associated with inc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
