Examples of metabolic disorders - Encyclopedia of diseases - Anomalies

May 5, 2013

  • Examples of metabolic disorders - diseases Encyclopedia
  • Anomalies

 examples of metabolic abnormalities

Metabolic disorders - "madness" of King George

George III (1738-1820) went down in history as the King of England, with which the US government colonialists rebelled and began to fight for their independence. He is also remembered as the king who suffered from severe attacks of insanity, which in the end made him unable to rule an empire. King George in different periods of life suffered from excruciating pain, increased excitability, paralysis and delirium Brad - not only crazy  Brad - not only crazy
 . Its "nervous attacks" suddenly began and took place over a minimum of three or four decades of his life, which ended in 1820, when he was 81.

Today, some historians believe that the problem was in the body of the king and not in his mind. When psychiatrists have studied his writings and recordings made by royal doctors, they found that among the symptoms of King George were not only attacks of madness, but the dark red color of urine, on the basis of what has been suggested that the monarch suffered from a metabolic disorder - porphyria . In 1967, two British scientists published an article that spoke in detail about the possible causes of seizures king. Further study of historical documents show that other members of the royal family could also be porphyria.

So the authors of history textbooks that call the mad King George may be wrong. During his reign the medicine was not sufficiently developed to allow doctors to understand how chemical processes occurring in the body affect the mind of man. We now know that people suffering from porphyria, there are problems with the blood, which in some cases violate the normal operation of the brain.

The body uses a special ingredient - porphyrins - to create gems that are the ingredients of the blood responsible for transporting oxygen in the tissue .  Eight different enzymes are involved in the metabolic process in which porphyrins are formed using gems .  When any of these enzymes are missing, or it does not function properly in the body builds up too much porphyrin, and they start with urine and feces .  As a result of gems produced in smaller quantities than is necessary, that people stay healthy .  This violation is porphyria .  Symptoms of patients with porphyria are associated with the condition of the skin, nervous system and internal organs .  When porphyria affects the skin, symptoms such as blisters, itching, swelling, or increased sensitivity to sunlight .  If the disease struck the brain, may appear hallucinations, delirium, convulsions, depression, anxiety and paranoia Paranoia - explicit symptoms are not observed  Paranoia - explicit symptoms are not observed
 . Other physical symptoms of porphyria can be a pain in the abdomen Abdominal pain: Types and Symptoms  Abdominal pain: Types and Symptoms
 , Muscle cramps, weakness, red or reddish color of urine. For the diagnosis of porphyria do a blood test, urine or faeces. Used to relieve symptoms hemin and some other preparations. Some patients benefit from a diet high in carbohydrates.

 Anomalies | Examples of metabolic disorders - diseases Encyclopedia

Children who can not drink milk: galactosemia

For the majority of infants and young children breast milk (or substitute a mixture), and then - cow's milk are the main sources of nutrients needed for the development and functioning of the body. But children born with metabolic disorder called galactosemia in the body does not have enough enzymes to digest the sugar found in milk - galactose. This enzyme is normally produced by the liver, but if its output is significantly reduced, galactose builds up in the blood, which can lead to serious health problems if the disease is not diagnosed in time and not treated.

Galactosemia symptoms usually appear during the first days of life, as soon as the baby start to breastfeed or formula feed .  Children often begin vomiting, liver increases, the skin and the whites of the eyes become yellowish tint .  Other signs of the disease can be an infection, irritability, lack of weight gain, and diarrhea .  If galactosemia is not detected quickly enough, it may lead to severe damage of the liver, eye, kidney and brain .  For this reason, in some states, newborn necessarily do a blood test for galactosemia .  This disease occurs in one of 20,000 newborns, and for its treatment of the child's diet is necessary to exclude milk and any products, which is composed of even a small amount of milk .  This reduces the risk of permanent damage to internal organs, but, nevertheless, there remains the risk of problems with growth, development, speech and mental functions when a child reaches the older .

 Anomalies | Examples of metabolic disorders - diseases Encyclopedia

Fructosemia

The organism of patients with a diagnosis can not be processed fructose - sugar, which is found in fruits, fruit juices, sugar, honey, syrups and other products. The main method of treatment is the complete elimination of fructose from the diet. This is necessary to avoid mental retardation Mental retardation - if the mind is underdeveloped  Mental retardation - if the mind is underdeveloped
 And liver and kidney damage.

 Anomalies | Examples of metabolic disorders - diseases Encyclopedia

Impaired carbohydrate metabolism

In the process of metabolism body extracts from the food simple sugars - glucose, it converts it into glycogen, a carbohydrate called, and puts it in the liver and muscle tissue .  When the body needs energy to perform various operations, certain enzymes cleave glycogen and then convert it into sugar .  Some people have problems with the development or administration of one or more of these enzymes, thereby developing glycogenoses (general name for a group of diseases in which impaired glycogen processing) .  There are several types of glycogen storage disease, each of which is associated with problems in the work of various enzymes .  One of these diseases - defect in glucose-6-phosphatase, or illness Gierke .  Gluco-6-fosataza - is an enzyme required for the release of glucose into the bloodstream, so the body can use it for energy .  Deficiency of this enzyme could cause dangerously low blood sugar levels, unless it is ingested with food every few hours .

Patients with the disease and other Gierke glycogen glycogen accumulates in too much in different parts of the body, causing problems with the liver, muscles, blood cells, heart, brain, and / or other bodies. For treatment usually recommended modifications in the diet.


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  • metabolism

Methandrostenolone: ​​anabolic steroid - Mechanism of Action

April 28, 2011

  • Methandrostenolone: ​​anabolic steroid
  • Mechanism of action

The mechanism of action of methandrostenolone

Methandrostenolone (international non-proprietary name - methandienone) refers to a group of steroid anabolic agents. This group of drugs has been obtained synthetically from the male sex hormones, which have a pronounced anabolic (anabolic - a complex biochemical reactions, aimed at assimilation of nutrients and the formation of their own organic substances of the body, mainly the protein).

Methandrostenolone penetrates the cell nucleus, stimulates protein synthesis in the body excretion delaying necessary for protein synthesis of nitrogen, potassium, phosphorus and sulfur. In addition, it activates the enzymes involved in redox reactions (tissue respiration), i.e. in the cell promotes accumulation of energy required for additional protein synthesis. Methandrostenolone stimulates all anabolic and catabolic suppresses (disintegration of complex organic substances) processes. All these processes lead to muscle growth and reduce deposition of fat. Dianabol also has anti-allergic properties.

The androgenic properties (ie properties of male sex hormones) in this group of drugs is suppressed, but nevertheless they are there, and the drug can stimulate the development of secondary sexual characteristics of male type.

 The mechanism of action | methandrostenolone: ​​anabolic steroid

Indications and contraindications for the use of methandrostenolone

The indications for the use of methandrostenolone are:

  • exhaustion (cachexia) of different origin;
  • metabolic protein (after severe injuries, operations, burns, radiation therapy);
  • chronic infectious diseases, which are accompanied by loss of protein;
  • progressive muscular dystrophy (muscle eating disorder, which leads to a reduction in its volume - atrophy);
  • muscle weakness that occurs in patients receiving glucocorticoids (GCS-induced myopathy);
  • diabetes Diabetes - threatening and incurable disease  Diabetes - threatening and incurable disease
 Complicated by the defeat of the blood vessels (diabetic angiopathy);
  • difficult to heal bone fractures and other injuries;
  • dysplasia of children against various diseases of the pituitary gland;
  • delayed puberty Puberty child - stages of a complex path  Puberty child - stages of a complex path
   and physical development of boys;
  • brain damage (encephalopathy) due to alcoholic liver changes (namely liver eliminates all toxic products of metabolism).

Contraindications methandrostenolone:

  • idiosyncrasy of the drug;
  • Some types of hormone-dependent tumors (prostatic cancer, male breast cancer, breast cancer Breast cancer: what every woman needs to know  Breast cancer: what every woman needs to know
   among women);
  • high content of calcium in the blood (hypercalcemia);
  • severe violations of the liver, kidneys and cardiovascular system;
  • pregnancy.

C care methandrostenolone is prescribed for atherosclerosis (including coronary heart disease), diabetes, tissue growth (hyperplasia) of the prostate, while breastfeeding a child (the data on the penetration of the drug in breast milk is not available), in the elderly. When applied in children and adolescents is a risk of premature closure of the epiphyseal growth zones bones (from these areas are growing bones, after closing the bone does not grow), early puberty in boys and the appearance of male sexual characteristics in girls.

 The mechanism of action | methandrostenolone: ​​anabolic steroid

Side effects that may occur when receiving methandrostenolone

When using methandrostenolone may arise following side effects:

  • strengthening effects of atherosclerosis, ie, disorders of lipid metabolism;
  • Iron deficiency anemia (decreased hemoglobin in red blood cells due to lack of iron, which is to build a protein in muscle tissue);
  • peripheral edema;
  • abdominal pain, nausea, vomiting, abdominal distension from gases;
  • lowering the clotting ability of the blood with a tendency to bleeding;
  • long-term use - serious complications of the liver (liver cell death, tumor formation, the liver and biliary tract);
  • increased secretion of the sebaceous glands;
  • increase or decrease in sex drive;
  • cramps, insomnia, fatigue;
  • women may appear male sexual characteristics: enlargement of the clitoris, deepening or hoarseness of the voice, menstrual irregularities, hirsutism male pattern, acne, oily skin Oily skin: Natural and artificial care  Oily skin: Natural and artificial care
 ;
  • boys - acne, formation of secondary sexual characteristics, slowing or stopping growth;
  • men - bladder irritation (increased frequency of urgency), breast enlargement, decreased sexual function;
  • older men - the expansion or swelling of the prostate gland.

In overdose methandrostenolone show signs of liver dysfunction. It is necessary to wash out the stomach and immediately call an ambulance, as further treatment may be carried out only in a medical facility.






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