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Hyperglycinuria
Iminoglycinuria is an autosomal recessive disorder of renal tubular transport affecting reabsorption of the amino acid glycine, and the imino acids proline and hydroxyproline. This results in excess urinary excretion of all three acids (''-uria'' denotes "in the urine"). Iminoglycinuria is a rare and complex disorder, associated with a number of genetic mutations that cause defects in both renal and intestinal transport systems of glycine and imino acids. Imino acids typically contain an imine functional group, instead of the amino group found in amino acids. Proline is considered and usually referred to as an amino acid, but unlike others, it has a secondary amine. This feature, unique to proline, identifies proline also as an imino acid. Hydroxyproline is another imino acid, made from the naturally occurring hydroxylation of proline. Presentation The primary characteristic of iminoglycinuria is the presence of glycine and imino acids in the urine. Otherwise, it is thought to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Imine
In organic chemistry, an imine ( or ) is a functional group or organic compound containing a carbon–nitrogen double bond (). The nitrogen atom can be attached to a hydrogen or an organic group (R). The carbon atom has two additional single bonds. Imines are common in synthetic and naturally occurring compounds and they participate in many reactions. Distinction is sometimes made between aldimines and ketimines, derived from aldehydes and ketones, respectively. Structure In imines the five core atoms (C2C=NX, ketimine; and C(H)C=NX, aldimine; X = H or C) are coplanar. Planarity results from the sp2-hybridization of the mutually double-bonded carbon and the nitrogen atoms. The C=N distance is 1.29–1.31 Å for nonconjugated imines and 1.35 Å for conjugated imines. By contrast, C−N distances in amines and nitriles are 1.47 and 1.16 Å respectively. Rotation about the C=N bond is slow. Using NMR spectroscopy, both E–Z notation, ''E'' and ''Z'' isomers of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Encephalopathy
Encephalopathy (; ) means any disorder or disease of the brain, especially chronic degenerative conditions. In modern usage, encephalopathy does not refer to a single disease, but rather to a syndrome of overall brain dysfunction; this syndrome has many possible organic and inorganic causes. Types There are many types of encephalopathy. Some examples include: * Mitochondrial encephalopathy: Metabolic disorder caused by dysfunction of mitochondrial DNA. Can affect many body systems, particularly the brain and nervous system. * Acute necrotizing encephalopathy, rare disease that occurs following a viral infection. * Glycine encephalopathy: A genetic metabolic disorder involving excess production of glycine. * Hepatic encephalopathy: Arising from advanced cirrhosis of the liver. * Hypoxic ischemic encephalopathy: Permanent or transitory encephalopathy arising from severely reduced oxygen delivery to the brain. * Static encephalopathy: Unchanging, or permanent, brain damage, u ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heterozygous
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 locus (genetics), 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#Chromosomal determination, sex-determination system. If both alleles of a diploid organism are the same, the organism is #Homozygous, homozygous at that locus. If they are different, the organism is #Heterozygous, heterozygous at that locus. If one allele is missing, it is #Hemizygous, hemizygous, and, if both alleles are missing, it is #Nullizygous, nullizygous. The ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Catabolism
Catabolism () is the set of metabolic pathways that breaks down molecules into smaller units that are either oxidized to release energy or used in other anabolic reactions. Catabolism breaks down large molecules (such as polysaccharides, lipids, nucleic acids, and proteins) into smaller units (such as monosaccharides, fatty acids, nucleotides, and amino acids, respectively). Catabolism is the breaking-down aspect of metabolism, whereas anabolism is the building-up aspect. Cells use the monomers released from breaking down polymers to either construct new polymer molecules or degrade the monomers further to simple waste products, releasing energy. Cellular wastes include lactic acid, acetic acid, carbon dioxide, ammonia, and urea. The formation of these wastes is usually an oxidation process involving a release of chemical free energy, some of which is lost as heat, but the rest of which is used to drive the synthesis of adenosine triphosphate (ATP). This molecule acts as a way ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ornithine
Ornithine is a non-proteinogenic α-amino acid that plays a role in the urea cycle. It is not incorporated into proteins during translation. Ornithine is abnormally accumulated in the body in ornithine transcarbamylase deficiency, a disorder of the urea cycle. The Moiety (chemistry), moiety derived from ornithine is called ornithyl. Role in urea cycle L-Ornithine is one of the products of the action of the enzyme arginase on L-arginine, creating urea. Therefore, ornithine is a central component of the urea cycle, which enables the disposal of excess nitrogen. Ornithine itself is recycled and, in a sense, acts as a catalyst. First, ammonia is converted into carbamoyl phosphate () by carbamoyl phosphate synthetase. Ornithine transcarbamylase then catalyzes the reaction between carbamoyl phosphate and ornithine to form citrulline and phosphate (Pi). Another amino group is contributed by aspartate, leading to the formation of arginine and the byproduct fumarate. The resulting arginine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tissue (biology)
In biology, tissue is an assembly of similar cells and their extracellular matrix from the same embryonic origin that together carry out a specific function. Tissues occupy a Biological organisation#Levels, biological organizational level between cell (biology), cells and a complete organ (biology), organ. Accordingly, organs are formed by the functional grouping together of multiple tissues. The English word "tissue" Morphological derivation, derives from the French word "", the past participle of the verb tisser, "to weave". The study of tissues is known as histology or, in connection with disease, as histopathology. Xavier Bichat is considered as the "Father of Histology". Plant histology is Studied Space Shuttle designs, studied in both plant anatomy and Plant physiology, physiology. The classical tools for studying tissues are the Microtome#Applications, paraffin block in which tissue is embedded and then sectioned, the staining, histological stain, and the Microscope, o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ornithine Translocase Deficiency
Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, is a rare autosomal recessive urea cycle disorder affecting the enzyme ornithine translocase, which causes ammonia to accumulate in the blood, a condition called hyperammonemia. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Signs and symptoms Pathophysiology Mutations in '' SLC25A15'' cause ornithine translocase deficiency. Ornithine translocase deficiency belongs to a class of metabolic disorders referred to as urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. The ''SLC25A15'' gene provides instructions for making a protein called a mitocho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Choroid
The choroid, also known as the choroidea or choroid coat, is a part of the uvea, the vascular layer of the eye. It contains connective tissues, and lies between the retina and the sclera. The human choroid is thickest at the far extreme rear of the eye (at 0.2 mm), while in the outlying areas it narrows to 0.1 mm. The choroid provides oxygen and nourishment to the outer layers of the retina. Along with the ciliary body and iris, the choroid forms the uveal tract. The structure of the choroid is generally divided into four layers (classified in order of furthest away from the retina to closest): *Haller's layer – outermost layer of the choroid consisting of larger diameter blood vessels; * Sattler's layer – layer of medium diameter blood vessels; * Choriocapillaris – layer of capillaries; and * Bruch's membrane (synonyms: Lamina basalis, Complexus basalis, Lamina vitra) – innermost layer of the choroid. Blood supply There are two circulations of the eye: ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retina
The retina (; or retinas) is the innermost, photosensitivity, light-sensitive layer of tissue (biology), tissue of the eye of most vertebrates and some Mollusca, molluscs. The optics of the eye create a focus (optics), focused two-dimensional image of the visual world on the retina, which then processes that image within the retina and sends nerve impulses along the optic nerve to the visual cortex to create visual perception. The retina serves a function which is in many ways analogous to that of the photographic film, film or image sensor in a camera. The neural retina consists of several layers of neurons interconnected by Chemical synapse, synapses and is supported by an outer layer of pigmented epithelial cells. The primary light-sensing cells in the retina are the photoreceptor cells, which are of two types: rod cell, rods and cone cell, cones. Rods function mainly in dim light and provide monochromatic vision. Cones function in well-lit conditions and are responsible fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gyrate Atrophy
{{Disambiguation ...
Gyrate may refer to: * Gyrus, a ridge on the cerebral cortex * Gyration, a type of rotation Music * ''Gyrate'' (album), a 1980 album by Pylon * "Gyrate", song by Pylon from Chomp (album) * "Gyrate", song by WizKid from Made in Lagos ''Made in Lagos'' is the fourth studio album by Nigerian singer Wizkid. It was released on 30 October 2020 by Starboy Entertainment and RCA Records. The album features guest appearances from Burna Boy, Skepta, H.E.R., Ella Mai, Tay Iwar, Projexx, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertension
Hypertension, also known as high blood pressure, is a Chronic condition, long-term Disease, medical condition in which the blood pressure in the artery, arteries is persistently elevated. High blood pressure usually does not cause symptoms itself. It is, however, a major risk factor for stroke, coronary artery disease, heart failure, atrial fibrillation, peripheral arterial disease, vision loss, chronic kidney disease, and dementia. Hypertension is a major cause of premature death worldwide. High blood pressure is classified as essential hypertension, primary (essential) hypertension or secondary hypertension. About 90–95% of cases are primary, defined as high blood pressure due to non-specific lifestyle and Genetics, genetic factors. Lifestyle factors that increase the risk include excess salt in the diet, overweight, excess body weight, smoking, physical inactivity and Alcohol (drug), alcohol use. The remaining 5–10% of cases are categorized as secondary hypertension, d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Stone
Kidney stone disease (known as nephrolithiasis, renal calculus disease, or urolithiasis) is a crystallopathy and occurs when there are too many minerals in the urine and not enough liquid or hydration. This imbalance causes tiny pieces of crystal to aggregate and form hard masses, or calculi (stones) in the upper urinary tract. Because renal calculi typically form in the kidney, if small enough, they are able to leave the urinary tract via the urine stream. A small calculus may pass without causing symptoms. However, if a stone grows to more than , it can cause blockage of the ureter, resulting in extremely sharp and severe pain ( renal colic) in the lower back that often radiates downward to the groin. A calculus may also result in blood in the urine, vomiting (due to severe pain), or painful urination. About half of all people who have had a kidney stone are likely to develop another within ten years. ''Renal'' is Latin for "kidney", while "nephro" is the Greek equiva ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
