- Examples of metabolic disorders - diseases Encyclopedia
- Anomalies
To metabolism disorder become generally more understandable, it is necessary to consider some examples of metabolic disorders
Metabolism: The basis of life of all living things
. For a description of all the presently known metabolic diseases would require a thick book.
The discovery changed the lives of thousands of children
In 1934, in Norway, a mother with two children, who had a severe form of mental retardation, the doctor poisoned Asbjorn Felling. She was almost desperate to understand what her children are sick - not one of the doctors who she was before, did not give a satisfactory answer to this question. She was also surprised and concerned about the unusual smell, which seems to be constantly comes from children.
After analyzing the urine of both children, Dr. Fellinge discovered that present in the sample material, which in the urine of a healthy person should not be. Although it was not possible to use sophisticated chemical tests that have emerged in the following decades, he finally was able to identify this substance - it was phenylpyruvic acid, a type of amino acid. The doctor immediately asked a question, not related to whether the presence of acid in the urine with mental retardation in children.
Dr. Fellinge collected urine samples from hundreds of other mentally retarded patients, and eight of them also revealed phenylpyruvic acid. He published a paper in which he linked the level of this acid with mental retardation
Mental retardation - if the mind is underdeveloped
It has, in total, ten patients. It is also conjectured that the acid is present in the urine because the patient can not process phenylalanine. This hypothesis was confirmed when the doctor and his colleagues found a way to use bacteria to test the level of phenylalanine in the blood.
So it happened that Dr. Fellinge discovered a new disease - phenylketonuria, thus changing the lives of thousands of children with this disorder who were born in the following years. He showed that mental retardation can be avoided if the disease is identified soon after birth, and to control the level of phenylalanine using a special diet. In 1962, President John F. Kennedy gave Felling award for achievements in the field of medicine. Around the same time, the physician Robert Guthrie use open Felling doctor for an effective method of testing of newborns for phenylketonuria. Today, he created the test is widely used, and has helped thousands of people live a full life.
When early diagnosis and special diet plays an important role: phenylketonuria
In the bottled water dispensers and containers with other products containing the sweetener aspartame, you can see a special warning: "contains phenylalanine"
. It warns people suffering from a metabolic disorder called phenylketonuria for that product has phenylalanine - an amino acid, which is part of aspartame
. People diagnosed with phenylketonuria is not produced in a sufficient amount of enzyme required for the conversion of amino acids into another substance - tyrosine
. In other words, the body can not properly process phenylalanine
. This amino acid is necessary for normal growth in infants and older children, as well as for the full development of protein throughout life
. However, if the phenylalanine accumulates in the body in too large an amount, it starts to poison the brain tissue that can gradually cause mental retardation
. Patients with this disorder may be symptoms such as unusual, musty smell of urine, and the frequent occurrence of skin rashes
.
Fortunately, doctors can detect phenylketonuria shortly after birth. The 1960 test was developed, which is now in some countries is used for inspection of all newborns. To do this test requires a small sample of the patient's blood, which is placed in an environment where they live bacteria are not able to grow and reproduce without phenylalanine. If the bacteria grow, the test will be positive for phenylketonuria. This disorder affects approximately one in 10,000 babies, making a rare disease phenylketonuria, although the total number of patients with this diagnosis is quite large.
If the child immediately after the detection of phenylketonuria transferred to a special diet, it avoids mental retardation, which in the past was considered an inevitable result of the disease. From the patient's diet is necessary to eliminate all foods that are high in protein
Foods high in protein - help for muscle mass
In which also a lot of phenylalanine - meat, fish, poultry, milk, eggs, cheese, ice cream, nuts, and many types of products containing conventional flour
. Restrictions for any particular patient may vary, depending on the severity of the disease
. Sticking to a diet can be very difficult, but it is necessary to maintain health and avoid serious mental retardation
. Babies with PKU typically have to have special artificial mixtures which are contraindicated nutritional replacement products
. At sufficiently early diagnosis and adherence to diet therapy, these children may be perfectly normal growth and development
. They can play sports, play active games, and do everything that other children do - except for eating certain foods
. They learn in schools, universities and graduate into adulthood the same chances in the professional field as well as their healthier peers
.
When the urine smells like maple syrup
Phenylketonuria - just one example of the metabolic disorders that develop when the body lacks the enzymes for the processing of amino acids. Another example - maple syrup urine disease, a disease or urine odor of maple syrup. This violation is a shortage of enzymes for processing of three amino acids - leucine, isoleucine and valine. These acids are essential for normal growth and functioning of the body. If these substances are not recycled properly, they accumulate in the tissues of the body, and give a urine odor, resembling the smell of maple syrup or burnt sugar. If untreated maple syrup urine disease can cause mental retardation, physical defects, disability and even death.
Since this disease is born, approximately one child in 225,000 As a rule, these children poor appetite and they are very excitable. It is important that the violation has been diagnosed as soon as possible; otherwise it will cause spasms, unconsciousness, brain damage and death. As with phenylketonuria, maple syrup urine disease patients must adhere to a strict diet that excludes some protein foods contain amino acids that the body can not recycle.