Maple syrup urine disease (MSUD) or maple syrup urine disease is a genetic disease (hereditary) and very serious. Very rare disease that makes the body unable to process the amino acid, causing a buildup of harmful substances in the urine and blood.
Normal human body to process protein from fish and meat into amino acids and remove parts that are not needed by the body. Amino acid itself is a substance that is produced after the body process protein from the food consumed. In patients with maple syrup urine disease, amino acids can not be processed normally. Whereas amino acids in high levels can harm the body.
Gene Mutation Causes
Children with maple syrup urine disease inherit two copies of each gene mutation from his father and mother. If only one gene, the child will only be a carrier of the disease MSUD. If the prospective father carries the gene and mothers MSUD MSUD also carry the gene, then their children are likely 1: 4 to suffering from MSUD. This is where the importance of informing if there is a family member who has a history of the disease.
Although there is no way to prevent the birth of a baby with MSUD, but doctors can assess whether the conditions of your genes and couples at risk for having a baby with maple syrup urine disease or other inherited disorders through genetic testing.
After the baby is born, MSUD generally can be identified from the symptoms that arise in the day or early weeks postpartum. Therefore, if Little alert to conditions like this.
The sooner the condition of the baby to the doctor, the more rapid and accurate treatment will be given. Proper handling can also avoid sick infants exposed to complications of the disease. To confirm the diagnosis, the doctor will apply a series of tests with a blood test
Accompanying Children with Maple Syrup Urine Disease
In children who are diagnosed with MSUD, consultation with a physician should be more intense than ever. Child development will continue to be monitored to ensure the nutritional needs always be fulfilled. Care to deal with maple syrup urine disease should be carried out continuously for life, such as blood tests to continue to monitor the levels of amino acids the body.
Here are some guidelines in assisting children with maple syrup urine disease.
Dietary habit
Children with MSUD to be assisted by a specialist metabolic diet to a diet low in protein in order to reduce the levels of amino acids, particularly isoleucine, valine and leucine.
In general, those with maple syrup disease should limit consumption of foods high in protein, such as eggs, fish, meat, cheese, nuts, although these ingredients needed for its development.
Some children may need to take supplements valine and isoleucine.
Breastfeeding and infant formula needs to be monitored because of general formula containing amino acids. Infants with maple syrup urine disease are usually given special formula milk that is low in protein but contains minerals, vitamins and amino acids that are required the Small.
Handle emergency conditions
Infants with maple syrup disease should be immediately taken to the hospital if you experience symptoms of metabolic crisis, as the body that looks limp and breathless. These symptoms can also appear on the age of the baby has entered the childhood. This could arise due to infection or other diseases. Your doctor may suggest to replace the food and milk generally contains proteins with amino acid supplements and drinks with a high sugar content. On the other hand, a baby with MSUD who continue to experience diarrhea should be referred immediately to the emergency room to spare then infused sake affected by dehydration.
Parents should bring a note or leaflet about the handling of this condition as to the emergency room, because there may be doctors who deal with the little one had never been treating patients with MSUD before.
liver transplantation
Maple syrup urine disease patients who underwent liver transplantation can live a normal life without metabolic disorders. However, liver transplantation procedure also has its own risks, so patients that underwent need to take drugs to suppress the immune system for life.
In the end, caring for children with MSUD disorders or other metabolic disorders does require extra patience. Without treatment, MSUD patients will experience life-threatening symptoms, such as brain damage, developmental delays, seizures or even coma, but with the right mentoring and done continuously, children with maple syrup urine disease can live active, normal.
Normal human body to process protein from fish and meat into amino acids and remove parts that are not needed by the body. Amino acid itself is a substance that is produced after the body process protein from the food consumed. In patients with maple syrup urine disease, amino acids can not be processed normally. Whereas amino acids in high levels can harm the body.
Gene Mutation Causes
Children with maple syrup urine disease inherit two copies of each gene mutation from his father and mother. If only one gene, the child will only be a carrier of the disease MSUD. If the prospective father carries the gene and mothers MSUD MSUD also carry the gene, then their children are likely 1: 4 to suffering from MSUD. This is where the importance of informing if there is a family member who has a history of the disease.
Although there is no way to prevent the birth of a baby with MSUD, but doctors can assess whether the conditions of your genes and couples at risk for having a baby with maple syrup urine disease or other inherited disorders through genetic testing.
After the baby is born, MSUD generally can be identified from the symptoms that arise in the day or early weeks postpartum. Therefore, if Little alert to conditions like this.
- Urine and sweat smell sweet
- Weight below normal
- Not willing to suckle
- Gag
- Fussy
- Often seen weak
- Hard to breathe
- Normal sleep patterns
The sooner the condition of the baby to the doctor, the more rapid and accurate treatment will be given. Proper handling can also avoid sick infants exposed to complications of the disease. To confirm the diagnosis, the doctor will apply a series of tests with a blood test
Accompanying Children with Maple Syrup Urine Disease
In children who are diagnosed with MSUD, consultation with a physician should be more intense than ever. Child development will continue to be monitored to ensure the nutritional needs always be fulfilled. Care to deal with maple syrup urine disease should be carried out continuously for life, such as blood tests to continue to monitor the levels of amino acids the body.
Here are some guidelines in assisting children with maple syrup urine disease.
Dietary habit
Children with MSUD to be assisted by a specialist metabolic diet to a diet low in protein in order to reduce the levels of amino acids, particularly isoleucine, valine and leucine.
In general, those with maple syrup disease should limit consumption of foods high in protein, such as eggs, fish, meat, cheese, nuts, although these ingredients needed for its development.
Some children may need to take supplements valine and isoleucine.
Breastfeeding and infant formula needs to be monitored because of general formula containing amino acids. Infants with maple syrup urine disease are usually given special formula milk that is low in protein but contains minerals, vitamins and amino acids that are required the Small.
Handle emergency conditions
Infants with maple syrup disease should be immediately taken to the hospital if you experience symptoms of metabolic crisis, as the body that looks limp and breathless. These symptoms can also appear on the age of the baby has entered the childhood. This could arise due to infection or other diseases. Your doctor may suggest to replace the food and milk generally contains proteins with amino acid supplements and drinks with a high sugar content. On the other hand, a baby with MSUD who continue to experience diarrhea should be referred immediately to the emergency room to spare then infused sake affected by dehydration.
Parents should bring a note or leaflet about the handling of this condition as to the emergency room, because there may be doctors who deal with the little one had never been treating patients with MSUD before.
liver transplantation
Maple syrup urine disease patients who underwent liver transplantation can live a normal life without metabolic disorders. However, liver transplantation procedure also has its own risks, so patients that underwent need to take drugs to suppress the immune system for life.
In the end, caring for children with MSUD disorders or other metabolic disorders does require extra patience. Without treatment, MSUD patients will experience life-threatening symptoms, such as brain damage, developmental delays, seizures or even coma, but with the right mentoring and done continuously, children with maple syrup urine disease can live active, normal.
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