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Methylmalonic Acidemia
Methylmalonic acidemias, also called methylmalonic acidurias, are a group of inherited metabolic disorders, that prevent the body from properly breaking down proteins and fats. This leads to a buildup of a toxic level of methylmalonic acid in body liquids and tissues. Due to the disturbed branched-chain amino acids (BCAA) metabolism, they are among the ''classical'' organic acidemias. Methylmalonic acidemias have varying diagnoses, treatment requirements, and prognoses, which are determined by the specific genetic mutation causing the inherited form of the disorder. The first symptoms may begin as early as the first day of life or as late as adulthood. Symptoms can range from mild to life-threatening. Some forms can result in death if undiagnosed or left untreated. Methylmalonic acidemias are found with an equal frequency across ethnic boundaries. Signs and symptoms Depending on the affected gene(s) and mutation, the present symptoms can range from mild to life-threatening. * Ac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Methylmalonic Acid
Methylmalonic acid (MMA) is a chemical compound from the group of dicarboxylic acids. It consists of the basic structure of malonic acid and also carries a methyl group. The salts of methylmalonic acid are called methylmalonates. Metabolism Methylmalonic acid is a by-product of the propionate metabolism pathway. The starting sources for this are the following with the respective approximate contributions to whole body propionate metabolism in brackets: * essential amino acids: methionine, valine, threonine and isoleucine (~ 50%) * odd-chain fatty acids (~ 30%) * propionic acid from bacterial fermentation (~ 20%) * cholesterol side chain * thymine The propionate derivative, propionyl-CoA, is converted into D- methylmalonyl-CoA by propionyl-CoA carboxylase and then converted into L-methylmalonyl-CoA by methylmalonyl-CoA epimerase. Entry into the citric acid cycle occurs through the conversion of L-methylmalonyl-CoA into succinyl-CoA by L-methylmalonyl-CoA mutase, whereby vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Failure To Thrive
Failure to thrive (FTT), also known as weight faltering or faltering growth, indicates insufficient weight gain or absence of appropriate physical growth in children. FTT is usually defined in terms of weight, and can be evaluated either by a low weight for the child's age, or by a low rate of increase in the weight. The term "failure to thrive" has been used in different ways, as no single objective standard or universally accepted definition exists for when to diagnose FTT. One definition describes FTT as a fall in one or more weight centile spaces on a World Health Organization (WHO) growth chart depending on birth weight or when weight is below the 2nd percentile of weight for age irrespective of birth weight. Another definition of FTT is a weight for age that is consistently below the fifth percentile or weight for age that falls by at least two major percentile lines on a growth chart. While weight loss after birth is normal and most babies return to their birth weight by t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Red Blood Cell
Red blood cells (RBCs), referred to as erythrocytes (, with -''cyte'' translated as 'cell' in modern usage) in academia and medical publishing, also known as red cells, erythroid cells, and rarely haematids, are the most common type of blood cell and the vertebrate's principal means of delivering oxygen () to the body tissue (biology), tissues—via blood flow through the circulatory system. Erythrocytes take up oxygen in the lungs, or in fish the gills, and release it into tissues while squeezing through the body's capillary, capillaries. The cytoplasm of a red blood cell is rich in hemoglobin (Hb), an iron-containing biomolecule that can bind oxygen and is responsible for the red color of the cells and the blood. Each human red blood cell contains approximately 270 million hemoglobin molecules. The cell membrane is composed of proteins and lipids, and this structure provides properties essential for physiological Cell (biology), cell function such as erythrocyte deformabil ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lethargy
Lethargy is a state of tiredness, sleepiness, weariness, fatigue, sluggishness, or lack of energy. It can be accompanied by depression, decreased motivation, or apathy. Lethargy can be a normal response to inadequate sleep, overexertion, overworking, stress, lack of exercise, improper nutrition, drug abuse, boredom, or a symptom of an underlying illness or disorder. It may also be a side effect of medication or caused by an interaction between medications or medication(s) and alcohol. It may also be an altered level of consciousness. When part of a normal response, lethargy often resolves with rest, adequate sleep, decreased stress, physical exercise, and good nutrition. Its symptoms, however, can last days or even months, so it can be a sign of a recent underlying illness or infection if it does not resolve normally. See also * Clinical depression * Disorders of diminished motivation * Encephalitis lethargica * Sleep apnea * Sleep deprivation * Somnolence Somnolence ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Failure
Kidney failure, also known as renal failure or end-stage renal disease (ESRD), is a medical condition in which the kidneys can no longer adequately filter waste products from the blood, functioning at less than 15% of normal levels. Kidney failure is classified as either acute kidney failure, which develops rapidly and may resolve; and chronic kidney failure, which develops slowly and can often be irreversible. Symptoms may include leg swelling, feeling tired, vomiting, loss of appetite, and confusion. Complications of acute and chronic failure include uremia, hyperkalemia, and volume overload. Complications of chronic failure also include heart disease, high blood pressure, and anaemia. Causes of acute kidney failure include low blood pressure, blockage of the urinary tract, certain medications, muscle breakdown, and hemolytic uremic syndrome. Causes of chronic kidney failure include diabetes, high blood pressure, nephrotic syndrome, and polycystic kidney diseas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ketonuria
Ketonuria is a medical condition in which ketone bodies are present in the urine. It is seen in conditions in which the body produces excess ketones as an indication that it is using an alternative source of energy. It is seen during starvation or more commonly in type 1 diabetes mellitus. Production of ketone bodies is a normal response to a shortage of glucose, meant to provide an alternate source of fuel from fatty acids. Pathophysiology Ketones are metabolic end-products of fatty acid metabolism. In healthy individuals, ketones are formed in the liver and are completely metabolized so that only negligible amounts appear in the urine. However, when carbohydrates are unavailable or unable to be used as an energy source, fat becomes the predominant body fuel instead of carbohydrates and excessive amounts of ketones are formed as a metabolic byproduct. Higher levels of ketones in the urine indicate that the body is using fat as the major source of energy. Ketone bodies that commo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infection
An infection is the invasion of tissue (biology), tissues by pathogens, their multiplication, and the reaction of host (biology), host tissues to the infectious agent and the toxins they produce. An infectious disease, also known as a transmissible disease or communicable disease, is an Disease#Terminology, illness resulting from an infection. Infections can be caused by a wide range of pathogens, most prominently pathogenic bacteria, bacteria and viruses. Hosts can fight infections using their immune systems. Mammalian hosts react to infections with an Innate immune system, innate response, often involving inflammation, followed by an Adaptive immune system, adaptive response. Treatment for infections depends on the type of pathogen involved. Common medications include: * Antibiotics for bacterial infections. * Antivirals for viral infections. * Antifungals for fungal infections. * Antiprotozoals for protozoan infections. * Antihelminthics for infections caused by parasi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves, and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but medical diagnosis, diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the mus ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoglycemia
Hypoglycemia (American English), also spelled hypoglycaemia or hypoglycæmia (British English), sometimes called low blood sugar, is a fall in blood sugar to levels below normal, typically below 70 mg/dL (3.9 mmol/L). Whipple's triad is used to properly identify hypoglycemic episodes. It is defined as blood glucose below 70 mg/dL (3.9 mmol/L), symptoms associated with hypoglycemia, and resolution of symptoms when blood sugar returns to normal. Hypoglycemia may result in headache, tiredness, clumsiness, trouble talking, confusion, fast heart rate, sweating, shakiness, nervousness, hunger, loss of consciousness, seizures, or death. Symptoms typically come on quickly. Symptoms can remain even soon after raised blood level. The most common cause of hypoglycemia is diabetes medication, medications used to treat diabetes such as insulin (medication), insulin, sulfonylureas, and biguanides. Risk is greater in diabetics who have eaten less than usual, recently exe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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] |
Propionic Acidemia
Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia. The disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of muscle tone. Without treatment, death can occur quickly, due to secondary hyperammonemia, infection, cardiomyopathy, or brain damage. Symptoms and signs Propionic acidemia can vary in severity. Severe propionic acidemia lead to symptoms already seen in newborns. Symptoms include poor feeding, vomiting, dehydration, acidosis, low muscle tone (hypotonia), seizures, and lethargy. The effects of propionic acidemia quickly become life-threatening. Long-term complications can include intellectual disability, autism, chronic kidney disease, cardiomyopathy, and prolonged QTc interval. Pathophysiology In healthy individuals, enzyme propionyl-CoA carboxylase converts propiony ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
