- Types of metabolic disorders - characteristic abnormalities
- Abnormalities
At the time, as a lot of people trying to lose weight, some people, in spite of all efforts, you can not gain weight. Both are related to the metabolism of the body. Perfect condition - when it normalized. But there are many types of metabolic disorders, which are fraught with serious illnesses.
Disturbances of amino acid metabolism
Amino acids - are materials of which are proteins; they are essential for the body. Congenital disorders of amino acid metabolism may be the result of any of the amino acids that can not normally cleaved, or that they can not enter the body's cells. Since these disorders manifest themselves at an early age, infants are tested for the most common of them - such as phenylketonuria, maple syrup urine disease, homocystinuria, tyrosinemia.
Phenylketonuria
Phenylketonuria - a disorder in which there is an accumulation of phenylalanine - essential amino acid that is not synthesized in the body, but is found in many food proudktah. The excess phenylalanine is usually converted to tyrosine - another amino acid, and excreted from the body. Without the enzyme, which converts it to a tyrosine, phenylalanine accumulates in the blood, but in excessive amounts it is toxic to the brain and can cause mental retardation.
PKU occurs in the majority of representatives of ethnic groups. If anyone in the family had the disease, a woman from the same family, expecting a baby, there should be an amniocentesis or chorionic villus sampling to find out whether the disorder in the fetus. However, in most cases, phenylketonuria is detected entering the routine examination of children soon after birth. In infants with phenylketonuria at first rarely present symptoms of the disorder, although some of them have an increased sleepiness (even taking into account the fact that the newborn sleeps a lot and so), and poor appetite. If the disease is not treated, it will lead to the development of mental retardation
Mental retardation - if the mind is underdeveloped
In the first years of life; in later years these patients develop severe forms of dementia). Other symptoms of phenylketonuria - cramps, nausea and vomiting, skin rashes, similar to eczema, lighter skin and hair color than the rest of the family, aggressive behavior (sometimes - directed the aggression, a tendency to self-harm), hyperactivity in some cases - Symptoms usually characteristic of mental illness
Mental illness - ashamed to ask for help?
. Children who do not receive the necessary treatment, the body and the urine odor are often putrefaction or mold - due to the fact that in their sweat and urine present phenylacetic acid, a byproduct of phenylalanine.
To prevent dementia phenylalanine intake should be strictly limited (but not completely ruled out, since in certain quantities it is necessary to sustain life) since the first weeks of life. Since all natural sources of protein contain too much phenylalanine to children with PKU can not give milk, meat and other protein foods. Instead, they have to have products specially treated and do not contain phenylalanine. Also in the diet can include foods that are low in protein - fruits, vegetables, and, in limited quantities, some cereals. A strict diet, stick to it if you start early enough and strictly comply with all recommendations of the physician, allows the patient to develop normally. However, if the parents can not properly monitor the child's diet, it can start with learning difficulty.
If you start to follow a special diet at the age of two or three years, it will help control such symptoms of the disease, hyperactivity and seizures, as well as increase the IQ of the child, but this measure will not be able to reverse the mental retardation that this age has already happened, in one way or another. Recent studies have shown that the state of adult mentally retarded patients with phenylketonuria (born at a time when the methods of early diagnosis of this disease has not appeared or were not available) may slightly improve if they are to limit the intake of phenylalanine.
Patients who have started a diet that limits the intake of phenylalanine, in early childhood, it is necessary to follow it throughout life, or may be reduced and the emergence of neurological and psychiatric problems.
Maple syrup urine disease
In the body in children with maple syrup urine disease, certain amino acids are not processed. These by-products accumulate in tissues, causing neurological changes, including seizures and mental retardation. These substances give urine and sweat smell, reminiscent of maple syrup.
There are several forms of maple syrup urine disease, and the symptoms depend on the severity of a particular form of the disease. Children with the most severe form of maple syrup urine disease develop neurological anomalies, including - convulsions and coma, in the first week of life; within a few days or weeks, death can occur. When milder forms of the disorder children may seem healthy at first, but then they have a frequent vomiting, confusion, urine smells like maple syrup, especially in severe physical stress (such as during an infectious disease or in the postoperative period).
For the treatment of children who have found a severe form of maple syrup urine disease, dialysis appointed
Dialysis - maintains normal body
. Some children with mild forms of the disease helps the injection of vitamin B1 (thiamine). Once the symptoms will be able to take control by means of a method of treatment, the child will always have to follow a special diet, which will be reduced due to the intake of certain amino acids.
Homocystinuria
In children with homocystinuria broken gomotsestina exchange - an amino acid that builds up in the body, causing a variety of symptoms; they may be mild or severe, depending on the defect, the enzyme responsible for the metabolism gomotsestina.
The first symptoms gomotsestinurii, including - the displacement of the eye's lens, causing a serious deterioration of vision, usually begin to appear in children older than three years. In most patients there are skeletal abnormalities, including osteoporosis. Typically, children with homocystinuria tall, thin, with curvature of the spine, elongated limbs and long fingers. Often there are mental disorders and mental retardation. Homocystinuria can cause spontaneous formation of blood clots that cause strokes becomes, high blood pressure and many other serious health problems. In some patients, a significant improvement is achieved by means of the vitamin B6 (pyridoxine) or vitamin B12 (cobalamin).
Tyrosinemia
In this disease, impaired metabolism of another amino acid - tyrosine. There are three types of tyrosinemia. Children with tyrosinemia type I symptoms usually appear during the first year of life; As a rule, they observed dysfunction of liver, kidney, and nerve fibers, which may lead to severe consequences, including liver failure and death. A diet that restricts intake of tyrosine in the body, is of little use. Some children with this disorder makes experimental drug that blocks the production of toxic metabolites. Often children with such diagnosis requires a liver transplant.
Tyrosinemia type II rarer. Sick children may develop dementia, often appearing skin and eyes. This violation of the restriction of tyrosine in the diet can help prevent serious health problems.
Tyrosinemia type III - the most rare form of tyrosinemia, which can also cause mental retardation in patients.
Disturbances of carbohydrate metabolism
Carbohydrates - a sugar, and sugar can be simple or more complex. Sucrose, or normal cane sugar, composed of two simpler sugars - glucose and fructose. Lactose (sugar found in milk) is composed of glucose and galactose. Sucrose and lactose must be split into simpler compounds enzymes before the body can absorb and utilize them. Carbohydrates consisting of bread, pasta, rice and other carbohydrate products consist of long molecular chains of simple sugars. These chains are cleaved during metabolism. If the body lacks an enzyme necessary for the processing of certain type of sugar, the sugar may begin to accumulate, causing various problems.
Glycogen storage disease
Glycogen includes a plurality of glucose molecules linked with each other. Glucose - the main source of energy for muscles (including the heart muscle) and brain. All of glucose which are not immediately used to produce energy are stored in liver and kidney and muscle glycogen, and retrieved as needed. There are many diseases associated with the violation of glycogen storage, called glycogen storage disease; each of them designated by Roman numerals.
Some of these violations are few and mild symptoms, while others are deadly. Specific symptoms, the age of their occurrence and severity vary considerably among the glycogen storage. In patients with glycogen storage disease II, V and VII of the types of the main symptom is usually weakness. Symptoms glycogenosis I, III and VI of the Model include low blood sugar levels
Blood sugar - one of the main indicators of human health
and a bulge in the abdominal cavity due to increased liver. Low blood sugar causes weakness, sweating, confusion, and sometimes - seizures and coma. Other consequences of these types of glycogen storage disease can be slowed down development, frequent infections, lesions of the mucous membrane of the mouth and intestines.
Glycogenoses sometimes lead to the fact that uric acid begins to accumulate in the joints (as a result, can develop gout) and kidneys (which can lead to the formation of stones). In patients with glycogen storage disease type I in the second decade of life or later, often develop kidney failure.
The method of treatment depends on the kind glycogenosis. Many patients are unable to prevent the decline in blood sugar levels with a special diet - a lot of meals, each of which must include foods rich in carbohydrates. Some patients to maintain normal blood glucose levels is recommended to take cornstarch every 4-6 hours.