the definition homocystinuria
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Homocystinuria Homocystinuria (HCU) is an inherited disorder of amino acid metabolism, caused by an enzymatic defect in a metabolic pathway that leads to increased levels of methionine.
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- At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process homocysteine and methionine properly. People with this condition often develop eye problems, abnormal blood clotting, skeletal abnormalities, and cognitive problems.
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homocysteine Homocysteine is a naturally occurring amino acid found in blood plasma. High levels of homocysteine in the blood are believed to increase the chance of heart disease, stroke, Alzheimer's disease, and osteoporosis. Homocysteine is a sulfur-containing amino acid that occurs naturally in all humans.
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Homocystinuria There are two main variants or types of homocystinuria: one is responsive to vitamin B6 (pyridoxine, the cofactor of cystathionine beta synthase) and the other does not respond to vitamin B6 and usually has more-pronounced symptoms than the first variant.
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Nondisjunction Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division. There are three forms of nondisjunction: failure of a pair of homologous chromosomes to separate in meiosis I, failure of sister chromatids to separate during meiosis II, and failure of sister chromatids to separate during mitosis. Nondisjunction results in daughter cells with abnormal chromosome numbers (aneuploidy).
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- homocystinuria-caused by mutations in the MTHFR gene. At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process certain amino acids properly.Most of these mutations change single amino acids in methylenetetrahydrofolate reductase.ther disorders-increased risk from variations of the MTHFR gene. Polymorphisms in the MTHFR MTHFR gene has also been suggested as a risk factor for cleft lip and palate, a birth defect in which there is a split in the upper lip and an opening in the roof of the mouth.
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- What is Sandifer Syndrome - Definition, Symptoms, Causes, Treatment. What is Symmastia - Definition, Symptoms, Causes, Treatment. Symmastia is a rare health disorder characterized to the breasts of women. What is Hyperspermia - Definition, Symptoms Causes, Treatment. Sex is the basic need of every mature human; male and female.
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Homoeroticism Homoeroticism is sexual attraction between members of the same sex, either male–male or female–female. The concept differs from the concept of homosexuality: it refers specifically to the desire itself, which can be temporary, whereas homosexuality implies a more permanent state of identity or sexual orientation.ore explicit sexual imagery occurring in the Mannerist and Tenebrist styles of the 16th and 17th centuries, especially in artists such as Agnolo Bronzino, Carlo Saraceni and Caravaggio, whose works were sometimes severely criticized by the Catholic Church.
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Cystathioninuria Cystathioninuria is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
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biology homology. 1. similarity of form or structure in two or more organisms owing to common descent. 2. similarity in form or structure between different parts of an organism owing to common origin. Cf. homodynamy.
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Gonochorism In biology, gonochorism (Greek offspring + disperse) or unisexualism or gonochory describes the state of having just one of at least two distinct sexes in any one individual organism. The term is most often used with animals, in which the individual organisms are often gonochorous. Gonochory is less common in plants.
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homogeneity Homogeneity is the sameness of things. If you're looking for homogeneity in your wardrobe, you'll want shirts and jeans that all have something similar about them. Homogeneity can also mean that something is the same throughout. Plain yogurt has a homogeneity about it — it's white all the way through and it should be the same texture throughout. On the other hand, yogurt with fruit at the bottom can be described as having heterogeneity — different textures and different colors.
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Homocysteine A high level of homocysteine in the blood (hyperhomocysteinemia) makes a person more prone to endothelial cell injury, which leads to inflammation in the blood vessels, which in turn may lead to atherogenesis, which can result in ischemic injury. Hyperhomocysteinemia is therefore a possible risk factor for coronary artery disease.
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Chromosome In the language of the geneticist, trisomy refers to the presence of an additional chromosome that is homologous with one of the existing pairs so that that particular chromosome is present in triplicate. An example of this type of disorder is a form of down syndrome (trisomy 21). Another example is patau's syndrome (trisomy 13), which produces severe anatomical malformations and profound mental retardation. The term monosomy refers to the absence of one of a pair of homologous chromosomes.
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Homocystinuria Some affected individuals also have developmental delay and learning problems. Less common forms of homocystinuria can cause intellectual disability, failure to grow and gain weight at the expected rate (failure to thrive), seizures, problems with movement, and a blood disorder called megaloblastic anemia.
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Homocysteine A high level of homocysteine in the blood (hyperhomocysteinemia) makes a person more prone to endothelial cell injury, which leads to inflammation in the blood vessels, which in turn may lead to atherogenesis, which can result in ischemic injury.
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Porphyria Disorder Subdivisions. General Discussion. Porphyria is a group of at least eight metabolic disorders that arise as a result of a malfunction in one of the eight steps in the body's synthesis of a complex molecule called heme. Heme is essential for the transport of oxygen to cells in the body.
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Cystinuria [edit on Wikidata] Cystinuria is an inherited autosomal recessive disease that is characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureter, and bladder. It is a type of aminoaciduria. 1 Genetics.
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Cystinuria Cystinuria is a cause of persistent kidney stones. It is a disease involving the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine, and is one of many causes of kidney stones.
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MTHFR gene variant Coronary artery disease, blood clots, and stroke are conditions caused by a combination of many genetic and environmental factors. Some rare MTHFR gene mutations can lead to homocystinuria, which is inherited in an autosomal recessive manner. Visit our Homocystinuria due to MTHFR deficiency webpage.
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Heterogeneous Thyroid Heterogeneous thyroid is really just a fancy way of saying that things are not uniform in the thyroid. Most of us have hear the term homogenous, which means the same or alike in context.ypothyroidism is just the opposite of hyperthyroidism – referring to a thyroid gland that is not producing enough of the thyroid hormones, or is under active. The symptoms of hypothyroidism include depression, fatigue and unexplained weight gain due to a slow down in the metabolism.
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homo- homo-, 1 prefix meaning the same: homocentric, homodont, homolysis. 2 prefix meaning the addition of one CH 2 group to the main compound: homochelidonine, homocystine, homoquinine.omo-, 1 prefix meaning the same: homocentric, homodont, homolysis. 2 prefix meaning the addition of one CH 2 group to the main compound: homochelidonine, homocystine, homoquinine.
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homocystinuria homocystinuria. an inborn error of metabolism of sulfur amino acids due to lack of the enzyme cystathionine synthase; it is characterized by homocystine in the urine and by mental retardation, hepatomegaly, ectopia lentis (displacement of the lens), and cardiovascular and skeletal disorders.
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Homocystinuria/Homocysteinemia Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine. Normally, these metabolites are not found in appreciable quantities in blood or urine.
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Hyperhomocysteinemia Hyperhomocysteinemia or hyperhomocysteinaemia is a medical condition characterized by an abnormally high level of homocysteine in the blood, conventionally described as above 15 µmol/L.
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Homocystinuria due to MTHFR deficiency Homocystinuria usually does not show symptoms in a newborn baby. If untreated, children show signs and symptoms of severe homocystinuria in infancy. Newborn screening in most states includes a screening test for homocystinuria so that newborn infants can be treated early in their lives.