Definition
Is a group of metabolic diseases of genetic and that results from the lack or loss of one of enzymes important for digestion of organic acids in the blood and get rid of the ammonia produced from the digestion of proteins. There are many organic acids in the blood and all the acid decomposes to materials other chemicals the help of many yeasts. At the lack of yeast, the rate of organic acid in the blood rises to dangerous levels and become like poison that kills cells and hampered from doing its job normally. And if not treated, it hurts the brain causing mental retardation e and may lead to death, God forbid.
Is it common ailments?
Diseases are the organic acids of rare genetic diseases worldwide, but it is widespread, particularly in our Arab society, and due to the prevalence of marriages between relatives, or the same tribe, though it may occur in some families without a family relationship and clear, but the kinship is the most common. In general, we do not recommend marrying relatives when the existence of such disease in this family also encourage doctors to consult a geneticist to detect the disease before marriage.
How do the child sick?
All the organic acid-related diseases and genetic diseases. Is transmitted and what is known as recessive inheritance. And is caused by a mutation in the gene (gene) of the yeast plant. And as each made two copies of yeast genes (genes) If both versions are afflicted boom hit the child but if the disease was a sound and the other is that the person can stand for the disease .. and the disease is transmitted from parents to their children .. The parents Akunan automatically carriers (carriers) of the disease when infected with one of their children. And as a result of pregnancy each and every one of them a mutation in one gene. And therefore does not transmit the disease from one parent only, but must be transmitted from both at the same time. There is also a probability of recurrence of the disease is 25% each time with the wife., and possible non-recurrence is 75%. It also should be noted that some children will be healthy carriers of a disease and they have to Kabuém Ihtersoa at marriage in order not to repeat the same problem in their offspring. Many of the fathers and mothers do not know they are carriers of the disease only after one of her children to be infected with one of these diseases. And may be a shock at first and may not believe this.
What are the symptoms of these diseases?
Usually a child is born normal and show symptoms of these diseases during the first days of life, especially after eating several feedings of milk and mother often after milk .. and the symptoms are usually a regurgitation with continuous idle and laziness and excessive sleep that up to full fainting condition. And may show a distinct smell of sweat and a strange child. And if they are not born ambulance, deteriorating the overall situation which leads to drop the full functions of the body, particularly of the respiratory organs and heart, and if not rectify the matter, spoke of death for the newborn, God forbid.
It may also be symptoms of some diseases of organic acids more alone, he spoke slowly, or in the form of fluctuations in the case of child health from normal to abnormal within a few days or weeks and may continue this volatility for several weeks and sometimes months. And of what is difficult matter to the doctors is the similarity of the symptoms of these diseases with bacterial infections, which occur for some babies. And more difficult if we know that some diseases of organic acids may be accompanied by bacterial infection in the blood.
How to diagnose these diseases?
The diagnosis of suspicion of these diseases in specialized laboratories and by analyzing a sample of urine and blood. Can also be diagnosed by cells of the placenta and a liquid Alaminoc the embryo during pregnancy. And measured the amount and type of excess organic acids in the urine. As the doctor measure the sugar and ammonia and Alakti and Alberovi. Also measures the number of white blood cells and platelets and and the test and kidney function and salt and liver function. May also planted the blood to make sure there and there are no bacteria in the blood .. with the development of medicine and possible diagnosis of many diseases of organic acids by mass spectrometry sequencing (Tandem MS) is rapidly and by several points from the blood of the child. As this device allowed for the detection of these diseases through the newborn screening program for metabolic diseases and by. Filter paper and before serious symptoms appear on the baby.
What is the treatment of these diseases?
Unfortunately there is no cure for these diseases. But it can fight this disease through the use of certain medications and adherence to a diet in particular. And every disease of organic acids treatment program is different. And the response to treatment varies depending on the type of disease and severity. And adopt the diet to reduce the amount of proteins that are addressed to a child and special proteins that are difficult for children to digest naturally by type of yeast missing and have attracted the lack of it. and of the most important drugs used to treat these diseases are some of the vitamins (Kvatamen B 12 and thiamine) and quasi-vitamins (Kalpiotin), which used as catalysts for the yeasts and compound carnitine, which will reduce the proportion of toxic substances in the body by expelled through the kidneys .. It may also use specific types of antibiotics to reduce the proportion of bacteria in the digestive system. . And when the accumulation of toxins dramatically, it may resort to the use of physician proton laundry or washing the blood and that as a temporary measure especially for newborns.
Are there any tips for the care of a child with?
Yes, here are a few of these tips:
1 - It is important to know that the treatment of these diseases for life and so it is important to follow up with your child's doctor and adherence to diet in order to avoid poor growth and serious complications on the brain and the mind of the child.
2 - It is important to follow-up and timeliness of the clinic with a doctor with specialist and dietician.
3 - children's health has deteriorated when exposed to any disease Kalzakam for example, or when a weak appetite. And when the illness was keen to give him more fluids, especially on materials that contain sugar and Kalasarat Encourage the child to eat a meal of food. 4 - It is important to be aware and know the warning symptoms Kagaye and inactivity and to come to the hospital quickly to receive the child the necessary treatment and before that the deterioration of his health.
5 - Be careful when you travel all you need to take precautions and care to be in the city that go to his medical experience with such diseases, especially if the extended travel time.
5 - may be desirable to take a medical report mentions the case of the child and the steps that must be done if his condition deteriorated.
6 - The follow-up of child health in the long term may require a combination of several medical specialties to help the child. Vmutir to follow the guidance specialists with regard to the child.
7 - You know that there is no cure for these diseases are therefore careful not to try any treatment except under the supervision of your doctor.
Guided by genetic
Since all diseases organic acids hereditary diseases, it is necessary to receive the family session with a specialist genetic diseases or guide genetic, if any, to give more details about the disease and speculation of the receiving of the disease and explain aspects of genetic and methods of transmission of the disease and the probability of recurrence. And methods prevention and inspection and testing during pregnancy before marriage for the rest of the family.
Methods of prevention and screening during pregnancy
A limited number of international centers of research which may have the ability to diagnose the fetus with the disease, and within the limits of the week 10-12 of the beginning of fertilization, and are analyzing a sample of cells, fluid Alaminoc or wall Alkuriony Oceans fetus and measuring the proportion of yeast is responsible for obtaining disease (enzyme) accurately.
Due to the lack of treatment for this disease, it is knowledge of injury to the fetus be useful only if the intention to drop the (abortion), the infected fetus. Note that there is disagreement on this issue legally
The genetic diagnosis of the gene (gene) that causes the disease to spouses and children, this is by searching for the mutation causing the disease and through which can tell if the children were healthy from the disease are carriers of a disease Kabuém or not. And the doctor to conduct these tests at puberty or intention to marry. and if the person is a carrier of the disease, it follows that being a mirror of the last examination or the man who intends to marry him. But even now, there is no such scrutiny except in a few centers across the world
And do not forget my brother and my sister to tell your doctor Alkarimin women and birth and the doctor observer of your child's past when planning for the next pregnancy, so as to follow the best way to follow up the pregnancy and to make the necessary tests immediately after birth and before the deterioration of the newborn.
Finally, we say that the marriage of relatives in general plays an important role in the emergence of genetic diseases that were not previously known, to the massage of the methods used for the prevention away from the mating between families that spread diseases, including this topic.
Is a group of metabolic diseases of genetic and that results from the lack or loss of one of enzymes important for digestion of organic acids in the blood and get rid of the ammonia produced from the digestion of proteins. There are many organic acids in the blood and all the acid decomposes to materials other chemicals the help of many yeasts. At the lack of yeast, the rate of organic acid in the blood rises to dangerous levels and become like poison that kills cells and hampered from doing its job normally. And if not treated, it hurts the brain causing mental retardation e and may lead to death, God forbid.
Is it common ailments?
Diseases are the organic acids of rare genetic diseases worldwide, but it is widespread, particularly in our Arab society, and due to the prevalence of marriages between relatives, or the same tribe, though it may occur in some families without a family relationship and clear, but the kinship is the most common. In general, we do not recommend marrying relatives when the existence of such disease in this family also encourage doctors to consult a geneticist to detect the disease before marriage.
How do the child sick?
All the organic acid-related diseases and genetic diseases. Is transmitted and what is known as recessive inheritance. And is caused by a mutation in the gene (gene) of the yeast plant. And as each made two copies of yeast genes (genes) If both versions are afflicted boom hit the child but if the disease was a sound and the other is that the person can stand for the disease .. and the disease is transmitted from parents to their children .. The parents Akunan automatically carriers (carriers) of the disease when infected with one of their children. And as a result of pregnancy each and every one of them a mutation in one gene. And therefore does not transmit the disease from one parent only, but must be transmitted from both at the same time. There is also a probability of recurrence of the disease is 25% each time with the wife., and possible non-recurrence is 75%. It also should be noted that some children will be healthy carriers of a disease and they have to Kabuém Ihtersoa at marriage in order not to repeat the same problem in their offspring. Many of the fathers and mothers do not know they are carriers of the disease only after one of her children to be infected with one of these diseases. And may be a shock at first and may not believe this.
What are the symptoms of these diseases?
Usually a child is born normal and show symptoms of these diseases during the first days of life, especially after eating several feedings of milk and mother often after milk .. and the symptoms are usually a regurgitation with continuous idle and laziness and excessive sleep that up to full fainting condition. And may show a distinct smell of sweat and a strange child. And if they are not born ambulance, deteriorating the overall situation which leads to drop the full functions of the body, particularly of the respiratory organs and heart, and if not rectify the matter, spoke of death for the newborn, God forbid.
It may also be symptoms of some diseases of organic acids more alone, he spoke slowly, or in the form of fluctuations in the case of child health from normal to abnormal within a few days or weeks and may continue this volatility for several weeks and sometimes months. And of what is difficult matter to the doctors is the similarity of the symptoms of these diseases with bacterial infections, which occur for some babies. And more difficult if we know that some diseases of organic acids may be accompanied by bacterial infection in the blood.
How to diagnose these diseases?
The diagnosis of suspicion of these diseases in specialized laboratories and by analyzing a sample of urine and blood. Can also be diagnosed by cells of the placenta and a liquid Alaminoc the embryo during pregnancy. And measured the amount and type of excess organic acids in the urine. As the doctor measure the sugar and ammonia and Alakti and Alberovi. Also measures the number of white blood cells and platelets and and the test and kidney function and salt and liver function. May also planted the blood to make sure there and there are no bacteria in the blood .. with the development of medicine and possible diagnosis of many diseases of organic acids by mass spectrometry sequencing (Tandem MS) is rapidly and by several points from the blood of the child. As this device allowed for the detection of these diseases through the newborn screening program for metabolic diseases and by. Filter paper and before serious symptoms appear on the baby.
What is the treatment of these diseases?
Unfortunately there is no cure for these diseases. But it can fight this disease through the use of certain medications and adherence to a diet in particular. And every disease of organic acids treatment program is different. And the response to treatment varies depending on the type of disease and severity. And adopt the diet to reduce the amount of proteins that are addressed to a child and special proteins that are difficult for children to digest naturally by type of yeast missing and have attracted the lack of it. and of the most important drugs used to treat these diseases are some of the vitamins (Kvatamen B 12 and thiamine) and quasi-vitamins (Kalpiotin), which used as catalysts for the yeasts and compound carnitine, which will reduce the proportion of toxic substances in the body by expelled through the kidneys .. It may also use specific types of antibiotics to reduce the proportion of bacteria in the digestive system. . And when the accumulation of toxins dramatically, it may resort to the use of physician proton laundry or washing the blood and that as a temporary measure especially for newborns.
Are there any tips for the care of a child with?
Yes, here are a few of these tips:
1 - It is important to know that the treatment of these diseases for life and so it is important to follow up with your child's doctor and adherence to diet in order to avoid poor growth and serious complications on the brain and the mind of the child.
2 - It is important to follow-up and timeliness of the clinic with a doctor with specialist and dietician.
3 - children's health has deteriorated when exposed to any disease Kalzakam for example, or when a weak appetite. And when the illness was keen to give him more fluids, especially on materials that contain sugar and Kalasarat Encourage the child to eat a meal of food. 4 - It is important to be aware and know the warning symptoms Kagaye and inactivity and to come to the hospital quickly to receive the child the necessary treatment and before that the deterioration of his health.
5 - Be careful when you travel all you need to take precautions and care to be in the city that go to his medical experience with such diseases, especially if the extended travel time.
5 - may be desirable to take a medical report mentions the case of the child and the steps that must be done if his condition deteriorated.
6 - The follow-up of child health in the long term may require a combination of several medical specialties to help the child. Vmutir to follow the guidance specialists with regard to the child.
7 - You know that there is no cure for these diseases are therefore careful not to try any treatment except under the supervision of your doctor.
Guided by genetic
Since all diseases organic acids hereditary diseases, it is necessary to receive the family session with a specialist genetic diseases or guide genetic, if any, to give more details about the disease and speculation of the receiving of the disease and explain aspects of genetic and methods of transmission of the disease and the probability of recurrence. And methods prevention and inspection and testing during pregnancy before marriage for the rest of the family.
Methods of prevention and screening during pregnancy
A limited number of international centers of research which may have the ability to diagnose the fetus with the disease, and within the limits of the week 10-12 of the beginning of fertilization, and are analyzing a sample of cells, fluid Alaminoc or wall Alkuriony Oceans fetus and measuring the proportion of yeast is responsible for obtaining disease (enzyme) accurately.
Due to the lack of treatment for this disease, it is knowledge of injury to the fetus be useful only if the intention to drop the (abortion), the infected fetus. Note that there is disagreement on this issue legally
The genetic diagnosis of the gene (gene) that causes the disease to spouses and children, this is by searching for the mutation causing the disease and through which can tell if the children were healthy from the disease are carriers of a disease Kabuém or not. And the doctor to conduct these tests at puberty or intention to marry. and if the person is a carrier of the disease, it follows that being a mirror of the last examination or the man who intends to marry him. But even now, there is no such scrutiny except in a few centers across the world
And do not forget my brother and my sister to tell your doctor Alkarimin women and birth and the doctor observer of your child's past when planning for the next pregnancy, so as to follow the best way to follow up the pregnancy and to make the necessary tests immediately after birth and before the deterioration of the newborn.
Finally, we say that the marriage of relatives in general plays an important role in the emergence of genetic diseases that were not previously known, to the massage of the methods used for the prevention away from the mating between families that spread diseases, including this topic.
