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Aminoaciduria
Aminoaciduria occurs when the urine contains abnormally high amounts of amino acids. In the healthy kidney, the glomeruli filter all amino acids out of the blood, and the renal tubules then reabsorb over 95% of the filtered amino acids back into the blood. In overflow aminoaciduria, abnormally high concentrations of amino acids in the blood plasma overwhelm the resorptive capacity of the renal tubules, resulting in high concentrations of amino acids in the urine. This may be caused by congenital disorders of amino acid metabolism, for example, phenylketonuria, or may be secondary to liver disease. In renal aminoaciduria, the renal tubules are unable to reabsorb the filtered amino acids back into the blood, causing high concentrations of amino acids in the urine. This may be caused by a defect in the transport proteins in the renal tubule, for example, as occurs in Hartnup disease, or may be due to damage to the kidney tubule, for example, as occurs in Fanconi syndrome Fanconi ...
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Hartnup Disease
Hartnup disease (also known as " pellagra-like dermatosis" and "Hartnup disorder") is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and niacin). Niacin is a precursor to nicotinamide (both are forms of vitamin B3), a necessary component of NAD+. The causative gene, '' SLC6A19'', is located on chromosome 5. It is named after the British family, Hartnup, who had this disease. Signs and symptoms Hartnup disease manifests during infancy with variable clinical presentation: failure to thrive, photosensitivity, intermittent ataxia, nystagmus, and tremor. Nicotinamide is necessary for neutral amino acid transporter production in the proximal renal tubules found in the kidney, and intestinal mucosal cells found in the small intestine. Therefore, a symptom stemming from this disorder results in increased amounts of amino acids in the urine. Pell ...
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Liver Disease
Liver disease, or hepatic disease, is any of many diseases of the liver. If long-lasting it is termed chronic liver disease. Although the diseases differ in detail, liver diseases often have features in common. Liver diseases File:Ground glass hepatocytes high mag cropped 2.jpg, Ground glass hepatocytes File:Primary biliary cirrhosis intermed mag much cropping.jpg, Primary biliary cirrhosis File:Buddchiari2.PNG, Budd–Chiari syndrome File:Non-alcoholic_fatty_liver_disease1.jpg, Micrograph of non-alcoholic fatty liver disease There are more than a hundred different liver diseases. Some of the most common are: * Fascioliasis, a parasitic infection of liver caused by a liver fluke of the genus '' FascioIa'', mostly '' FascioIa hepatica''. * Hepatitis, inflammation of the liver, is caused by various viruses ( viral hepatitis) also by some liver toxins (e.g. alcoholic hepatitis), autoimmunity ( autoimmune hepatitis) or hereditary conditions. * Alcoholic liver disease is a h ...
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Malnutrition
Malnutrition occurs when an organism gets too few or too many nutrients, resulting in health problems. Specifically, it is a deficiency, excess, or imbalance of energy, protein and other nutrients which adversely affects the body's tissues and form. Malnutrition is a category of diseases that includes undernutrition and overnutrition. Undernutrition is a lack of nutrients, which can result in stunted growth, wasting, and being underweight. A surplus of nutrients causes overnutrition, which can result in obesity or toxic levels of micronutrients. In some developing countries, overnutrition in the form of obesity is beginning to appear within the same communities as undernutrition. Most clinical studies use the term 'malnutrition' to refer to undernutrition. However, the use of 'malnutrition' instead of 'undernutrition' makes it impossible to distinguish between undernutrition and overnutrition, a less acknowledged form of malnutrition. Accordingly, a 2019 report by The Lance ...
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Kidney Disease
Kidney disease, or renal disease, technically referred to as nephropathy, is damage to or disease of a kidney. Nephritis is an Inflammation, inflammatory kidney disease and has several types according to the location of the inflammation. Inflammation can be diagnosed by blood tests. Nephrosis is non-inflammatory kidney disease. Nephritis and nephrosis can give rise to nephritic syndrome and nephrotic syndrome respectively. Kidney disease usually causes a loss of Assessment of kidney function, kidney function to some degree and can result in kidney failure, the complete loss of kidney function. Kidney failure is known as the end-stage of kidney disease, where Kidney dialysis, dialysis or a Kidney transplantation, kidney transplant is the only treatment option. Chronic kidney disease is defined as prolonged kidney abnormalities (functional and/or structural in nature) that last for more than three months. Acute kidney disease is now termed acute kidney injury and is marked by the ...
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Urine
Urine is a liquid by-product of metabolism in humans and many other animals. In placental mammals, urine flows from the Kidney (vertebrates), kidneys through the ureters to the urinary bladder and exits the urethra through the penile meatus (males) or urethral meatus of the vulva (females) during urination. In other vertebrates, urine is excreted through the cloaca. Urine contains water-soluble by-products of Cell (biology), cellular metabolism that are rich in nitrogen and must be clearance (medicine), cleared from the Circulatory system, bloodstream, such as urea, uric acid and creatinine. A urinalysis can detect nitrogenous wastes of the mammalian body. Urine plays an important role in the earth's nitrogen cycle. In balanced ecosystems, urine fertilizes the soil and thus helps plants to grow. Therefore, Reuse of excreta, urine can be used as a fertilizer. Some animals use it to territory (animal)#Scent marking, mark their territories. Historically, aged or fermented urine (kn ...
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Amino Acid
Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although over 500 amino acids exist in nature, by far the most important are the 22 α-amino acids incorporated into proteins. Only these 22 appear in the genetic code of life. Amino acids can be classified according to the locations of the core structural functional groups ( alpha- , beta- , gamma- amino acids, etc.); other categories relate to polarity, ionization, and side-chain group type ( aliphatic, acyclic, aromatic, polar, 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 on Earth and its emergence. Amino acids are formally named by the IUPAC- IUBMB Joint Commi ...
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Glomerulus (kidney)
The glomerulus (: glomeruli) is a network of small blood vessels (capillaries) known as a ''tuft'', located at the beginning of a nephron in the kidney. Each of the two kidneys contains about one million nephrons. The tuft is structurally supported by the mesangium (the space between the blood vessels), composed of Intraglomerular mesangial cell, intraglomerular mesangial cells. The blood is filtered across the capillary walls of this tuft through the glomerular filtration barrier, which yields its Ultrafiltration (renal), filtrate of water and soluble substances to a cup-like sac known as Bowman's capsule. The filtrate then enters the Nephron#Renal tubule, renal tubule of the nephron. The glomerulus receives its blood supply from an afferent arteriole of the renal arterial circulation. Unlike most capillary beds, the glomerular capillaries exit into efferent arterioles rather than venules. The resistance of the efferent arterioles causes sufficient hydrostatic pressure within th ...
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Renal Tubule
The nephron is the minute or microscopic structural and functional unit of the kidney. It is composed of a renal corpuscle and a renal tubule. The renal corpuscle consists of a tuft of capillaries called a glomerulus and a cup-shaped structure called Bowman's capsule. The renal tubule extends from the capsule. The capsule and tubule are connected and are composed of epithelial cells with a lumen. A healthy adult has 1 to 1.5 million nephrons in each kidney. Blood is filtered as it passes through three layers: the endothelial cells of the capillary wall, its basement membrane, and between the podocyte foot processes of the lining of the capsule. The tubule has adjacent peritubular capillaries that run between the descending and ascending portions of the tubule. As the fluid from the capsule flows down into the tubule, it is processed by the epithelial cells lining the tubule: water is reabsorbed and substances are exchanged (some are added, others are removed); first with the in ...
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Blood Plasma
Blood plasma is a light Amber (color), amber-colored liquid component of blood in which blood cells are absent, but which contains Blood protein, proteins and other constituents of whole blood in Suspension (chemistry), suspension. It makes up about 55% of the body's total blood volume. It is the Intravascular compartment, intravascular part of extracellular fluid (all body fluid outside cells). It is mostly water (up to 95% by volume), and contains important dissolved proteins (6–8%; e.g., serum albumins, globulins, and fibrinogen), glucose, clotting factors, electrolytes (, , , , , etc.), hormones, carbon dioxide (plasma being the main medium for excretory product transportation), and oxygen. It plays a vital role in an intravascular osmotic effect that keeps electrolyte concentration balanced and protects the body from infection and other blood-related disorders. Blood plasma can be separated from whole blood through blood fractionation, by adding an anticoagulant to a tube ...
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Congenital Disorders Of Amino Acid Metabolism
Congenital errors of amino acid metabolism are inherited metabolic disorders that impair the synthesis and degradation of amino acids. This means that the body has trouble breaking down and building some amino acids, the building blocks of protein in the body. The body can also have trouble with cellular update up amino acids. There are many different disorders in this classification and it can manifest in different ways. Many of these disorders result in the buildup of amino acids in the body which can be harmful and sometimes life threatening. Many of these disorders are part of newborn screening blood tests to ensure an early diagnosis and appropriate treatment for best possible outcomes. Types * Alkaptonuria * Aspartylglucosaminuria * Branched-chain keto acid dehydrogenase kinase deficiency * Methylmalonic acidemia * Maple syrup urine disease * Homocystinuria * Tyrosinemia * Trimethylaminuria * Hartnup disease * Biotinidase deficiency * Ornithine carbamoyltransferase deficie ...
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Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight. Phenylketonuria is an inherited genetic disorder. It is caused by mutations in the '' PAH'' gene, which can result in inefficient or nonfunctional phenylalanine hydroxylase, an enzyme responsible for the metabolism of excess phenylalanine. This results in the buildup of dietary phenylalanine to potentially toxic levels. It is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to develop. The two main types are classic PKU and variant PKU, depending on whether any enzyme function remains. Those with one copy of a mutated gene typically do not ha ...
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Liver Disease
Liver disease, or hepatic disease, is any of many diseases of the liver. If long-lasting it is termed chronic liver disease. Although the diseases differ in detail, liver diseases often have features in common. Liver diseases File:Ground glass hepatocytes high mag cropped 2.jpg, Ground glass hepatocytes File:Primary biliary cirrhosis intermed mag much cropping.jpg, Primary biliary cirrhosis File:Buddchiari2.PNG, Budd–Chiari syndrome File:Non-alcoholic_fatty_liver_disease1.jpg, Micrograph of non-alcoholic fatty liver disease There are more than a hundred different liver diseases. Some of the most common are: * Fascioliasis, a parasitic infection of liver caused by a liver fluke of the genus '' FascioIa'', mostly '' FascioIa hepatica''. * Hepatitis, inflammation of the liver, is caused by various viruses ( viral hepatitis) also by some liver toxins (e.g. alcoholic hepatitis), autoimmunity ( autoimmune hepatitis) or hereditary conditions. * Alcoholic liver disease is a h ...
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