Фенилкетонурия (ФКУ) – довольно ред

Фенилкетонурия (ФКУ) – довольно редкое наследственное заболевание, связанное с нарушением обмена аминокислот. Организм больного фенилкетонурией человека не способен расщеплять аминокислоту фенилаланин, которая поступает с белковой пищей. В результате этого, в тканях накапливаются соединения, отравляющие нервную систему и головной мозг в частности. Развивается умственная отсталость (малоумие), вплоть до идиотии. В связи с этим болезнь получила и другое название – фенилпировиноградная олигофрения.

Однако из всех наследственных заболеваний фенилкетонурия, единственное, которое удается полностью нейтрализовать. Сегодня ребенка, рожденного с признаками ФКУ, можно вырастить абсолютно здоровым. Обезопасить мозг малыша удается с помощью специальной диеты, о которой мы расскажем ниже.

В разных странах частота этого заболевания отличается в разы. В России рождается один больной ребенок на 10 000. В некоторых регионах Великобритании этот показатель в два раза выше – 1:5000. Дети на Африканском континенте практически не болеют фенилкетонурией. Среди больных количество девочек почти в два раза превышает количество мальчиков.
Причины
Заболевание наследуется только в том случае, если оба родителя передали ребенку склонность к болезни, и поэтому встречается довольно редко. У двух процентов людей есть измененный ген, который отвечает за развитие болезни. При этом человек остается полностью здоровым. Но когда мужчина и женщина, носители мутировавшего гена, вступают в брак и решают завести детей, то вероятность того, что малыши будут страдать от фенилкетонурии, составляет 25%. А возможность того, что дети будут носителями патологического гена ФКУ, но сами останутся практически здоровыми, составляет 50%.
Причина возникновения этого заболевания связана с тем, что в печени человека не вырабатывается особый фермент – фенилаланин-4-гидроксилаза. Он отвечает за превращение фенилаланина в тирозин. Последний входит в состав пигмента меланина, ферментов, гормонов и необходим для нормальной работы организма.
При ФКУ фенилаланин, в результате побочных путей обмена, превращается в вещества, которых не должно быть в организме: фенилпировиноградную и фенилмолочную кислоты, фенилэтиламин и ортофенилацетат. Эти соединения накапливаются в крови и оказывают комплексное действие:
• нарушают процессы жирового обмена в мозге
• вызывают дефицит нейромедиаторов, которые передают нервный импульс между клетками нервной системы
• оказывают токсическое действие, отравляя мозг
Это вызывает значительное и необратимое снижение интеллекта. У ребенка быстро развивается умственная отсталость – олигофрения.

Результаты (английский) 1:

Phenylketonuria (PKU) is a rare hereditary disease associated with the violation of amino acids. Body is unable to break down human PKU amino acid phenylalanine, which comes with a protein food. As a result, in the tissues accumulate compounds poisoning the nervous system and the brain in particular. Develops mental retardation (maloumie), right down to the idiocy. The disease has received and another name-phenylpyruvic mental retardation.However, of all the hereditary disease phenylketonuria, the only thing that can neutralize. Today, a child born with PKU can grow perfectly healthy. Secure the baby's brain is through a special diet, which we will explain below.In different countries, the frequency of this disease is different at times. In Russia, one sick child is born at 10000. In some regions of the uk, this figure is twice-1: 5000. Children on the African continent does not have pku. Among patients, the number of girls is almost twice the number of boys.The reasons forThe disease is inherited only when both parents have transferred child prone to illness, and therefore is quite rare. Two per cent of people have a modified gene that is responsible for the development of the disease. This person is completely healthy. But when a man and a woman, media mutated gene marry and have children, the chances that kids will suffer from phenylketonuria, amounts to 25%. And the possibility that children will be carriers of the disease gene for PKU, but remain almost healthy, is 50%.The cause of this disease is that the liver does not produce a special enzyme, phenylalanine-4-hydroxylase. He is responsible for the conversion of phenylalanine to tyrosine. The latter is part of the pigment melanin, enzymes, hormones and is necessary for normal functioning of the organism.When PKU phenylalanine, side paths, converted into a substance which should not be in the body: fenilpirovinogradnuû and fenilmoločnuû acids, phenylethylamine and ortofenilacetat. These compounds build up in the blood and have a complex effect:• violate the processes of lipid metabolism in the brain• cause deficiency of neurotransmitters, which transmit the nerve impulse between cells of the nervous system• have a toxic effect, poisoning the brainThis is a significant and irreversible decline in intelligence. The child's rapidly evolving mental retardation-mental retardation.

Результаты (английский) 2:

Phenylketonuria (PKU) - a rare hereditary disease associated with metabolic disorders of amino acids. The body of the patient with phenylketonuria person is not able to break down the amino acid phenylalanine, which comes with a protein food. As a result, the compounds accumulate in the tissue, poisoning the nervous system and the brain in particular. Develops mental retardation (maloumie), up to idiocy. In this regard, the disease has another name - phenylpyruvic oligophrenia. But of all hereditary diseases phenylketonuria, the only one that can be completely neutralized. Today, a child born with signs of PKU can grow perfectly healthy. Secure the brain manages kid with a special diet, which we describe below. In different countries, the frequency of this disease is different at times. The Russian born a sick child 10 000. In some parts of the UK, the figure is twice as high - 1: 5000. Children in Africa suffer from phenylketonuria little. Among patients with the number of girls is almost twice the number of boys. The causes of disease is inherited only when both parents give the child a tendency to the disease, and therefore quite rare. Two percent of people have the altered gene responsible for the disease. This man is completely healthy. But when a man and a woman, carriers of the mutated gene, marry and decide to have children, the likelihood that children will suffer from phenylketonuria, is 25%. And the possibility that the children will be carriers of the abnormal gene PKU, but they remain relatively healthy, is 50%. The cause of this disease is related to the fact that in the human liver does not produce a special enzyme - phenylalanine-4-hydroxylase. It is responsible for converting phenylalanine to tyrosine. The last part of the pigment melanin, enzymes, hormones, and is needed for normal body function. When PKU phenylalanine, resulting in adverse ways to exchange turns into a substance that should not be in the body: and phenyllactic phenylpyruvic acid, and phenylethylamine ortofenilatsetat. These compounds accumulate in the blood and have a complex action: • violate the processes of fat metabolism in the brain • causes deficiency of neurotransmitters, which transmit nerve impulses between cells of the nervous system • have a toxic effect, poisoning the brain This is a significant and irreversible reduction in intelligence. The child is rapidly developing mental retardation - mental retardation.

Результаты (английский) 3:

Phenylketonuria (phi kappa y) -- a rare genetic disease, involving amino acids sharing violation. The body of patients with phenylketonuria were not able to make the amino acid phenylalanine split,Protein from foods. Therefore, the toxic compounds in tissues of accumulation, especially the nervous system and brain. Mental retardation (a C a m e le me) development, to me, me until me from me.Associated with this disease and a PI Phi P E T c me from the scene of the first part -- another name amphetamine received. But from

all genetic disease phenylketonuria, the only completely neutralized.Today, signs of the birth of a baby, you can grow a Phi kappa, is absolutely healthy. Vaccination of infants with special diet managed to get through the brain, we tell the following

.The disease in different countries is different frequency doubled. In a sick child was born in 100000 in russia. In some areas, this number is two times more than the British -- 1: 5000.The children hardly ill in Africa, pku. The number of nearly two times the number of girls with boys.

disease is a genetic reason, only in one case,If parents to children tend to encounter diseases, so it is very rare. There are two percent people who have modified genes, responsible for the development of disease.It is still perfectly healthy people. However, when a man and a woman, and to me, from the carrier state. The state, by von gene, and decided to get married, ruin probability, the toddler suffering from phenylketonuria,25%. While the possibility, the children will own a Phi kappa carrier gene etching of the sick, but is almost healthy, accounted for 50%.
is the causes of the diseaseNo -- human liver phenylalanine hydroxylase enzyme special 4. He is in charge of tyrosine by PI alpha PI Phi from the scene. From the scene of the transformation of the society. The last to enter the composition of melanin, the pigment,Hormone and organisms work normally, need a Phi kappa
, phenylalanine. Due to the exchange of material into the side way, in vivo, should not be:Phi e from the scene of me, from me, and are from c t, pgfla to society and phi E and elixir from the scene of a long series of Korolev PLM system had a energy-saving acid, phenylethylamine and C, C, e Le tse.png. Phi from the scene, the E. The comprehensive effect produced by these compounds accumulate in the blood and exchange process:
-
violation of facial atrophy of brainNeurotransmitter transmission of nerve impulses deficits caused by nervous system - -,
between cells to produce toxic effects, to
This is great and irreversible mental decline caused by brain.The mental retardation of children -- from PI Phi p e von me from the scene for rapid development.