Maple syrup urine disease

Maple syrup urine Maple syrup urine disease disease (MSUD) is an inherited case of rare and dangerous.

Infection occurs when the body can not deal with some of the amino acids (the basic building block of protein structure), leading to the accumulation of harmful substances in the blood and urine.

Our bodies are usually dismantled protein foods such as meat and fish into amino acids. Being often sabotage any unnecessary amino acids, the body gets rid of them.

You may not children with objects in this case the dismantling of some amino acids such as leucine Leucine and valine Alaazolusen Isoleucine and Valine. The presence of very large amounts of these amino acids harmful.

One of the characteristic symptoms of infection maple syrup urine disease is the sugary smell of urine, an offer that gave the state its name.

 Symptoms

Symptoms of maple syrup urine disease usually appear within days or following the birth of the first weeks. The most common symptoms include the following:

     Paul Diabetes smell with perspiration.
     Malnutrition or lack of appetite.
     weight loss.

 Infants infected may also suffer from the condition known as bouts of seizures Metabolic Metabolic crisis, which may occur at an early stage of life. Nubia include metabolic symptoms as follows:

     Energy shortages.
     Vomiting.
     Irritability.
     Respiratory difficulties.

 Necessary to get immediate medical help if symptoms of metabolic Nubia appeared on the infant. The doctor will provide guidelines to help identify signs of infection.

It may be precipitated by metabolic shift in the late stage of childhood on the impact of infection or disease in some cases. The doctor will provide the child with the instructions of emergency treatment to be followed in the event of injury to a child in Nubia, which helps prevent the onset of symptoms.

Diagnosis

When the infant is about five days, being a bloody examination to investigate injury maple syrup urine disease. This involves pricking the heel to collect necessary for testing the blood drops.

If the positive test result, you can begin making direct treatment for the child to reduce the likelihood of serious complications, where appropriate help early diagnosis and treatment on the situation has improved dramatically. However, we must continue to use the therapy throughout life.

 If the baby does not receive treatment, he has shown symptoms of severe life-threatening, including the occurrence of epileptic seizures or enter into lethargy (coma). Also it is some infants who did not receive treatment for this condition are at risk of brain damage and developmental delays.

This situation is relatively rare, as it affects infants and one out of every 185,000 births around the world.

the cure

● diet

Children with disease maple syrup urine converts to a specialist in nutrition and metabolism, and described his diet low protein. The goal is to reduce the amount of amino acids covered by the child, especially Leucine leucine and valine Alaazolusen Isoleucine and Valine.

It is necessary to limit the child's intake of foods rich in protein, which include the following:

 Meat     Fish
     Cheese
     eggs
     Legumes
     Nuts

The dietician to provide detailed instructions and directives, because the baby still needs to eat some of these foods to achieve the proper growth and development.

 Some children need to take supplements Alaazolusen and valine in parallel with the prescribed diet. This would maintain the normal level of this amino acid in the blood to happen without causing additional damage. It is necessary to monitor blood levels of these tests.

It is necessary to monitor breastfeeding and measuring the amount of milk received by the infant, according to the advice of a dietician. The natural infant formula on the amino acids that should be taken to reduce, and thus need to be a special type of milk containing the industrial describe all the vitamins, minerals, amino acids and other baby needs it.

Patient needs maple syrup urine disease to a low-protein diet for the rest of his life, so as to reduce the risk of metabolic bout. The child will need over the years to learn how to diet alone control of his regime, and continuous communication with a dietician to monitor his condition and receiving the necessary guidance.

 ● Alasaava treatment

If the baby had been infected, as if the temperature soared or suffered from colds, Vsyazdad risk of suffering a heart Metabolic. It is possible to reduce the risk by following Alasaava diet during the period of his illness.

The dietician will provide detailed instructions about that, but the goal is to replace the milk and foods containing protein fluids especially rich in sugar and food supplements containing amino acids.

   If not, the baby can keep the foods in the stomach (so much food was vomiting) or was suffering from diarrhea frequently, you should contact hospital treatment and taking a child to the emergency department at the hospital.

Once you enter the hospital, the baby should be monitored and treated with leaking fluids directly into a vein.

They should take the baby to the hospital, too, if they appeared to have symptoms of metabolic shift, such as irritability or lack of energy or respiratory difficulties.

  Liver Transplant

Liver is a therapeutic options for maple syrup urine disease transplant; That would eliminate the risk of heart when the patient's metabolic, and can follow the normal diet.

 However, the liver transplant is a major operation and its own risks. And you will be obliged to use a drug inhibitor of the immune system (immune inhibitor drug) the rest of his life to stop the body's rejection of the new liver.

It is necessary to examine all the pros and cons before taking a decision to carry out planting liver or not to do so.

 Jump genetic disease maple syrup urine

Mutation responsible for the disease incidence maple syrup urine passed from parents who do not normally suffer from any symptoms of this condition. This is known as hereditary somatic chromosome recessive Autosomal recessive inheritance.

This means that it is necessary to duplicate a meeting of the mutated genes even when the child is infected with the situation - one from the mother and the other from the father. When the transmission of the mutant gene and one only, the child will be just a carrier of a genetic disease.

 If pregnant man married to a mutant genes of a woman carrying a mutant genes also; In the face of a child who Ingbanh three possibilities:

     25% of the infected with maple syrup urine.
     50% just be a holder for disease genes.
     25% that does not carry any mutant gene.

 Although you can not prevent injury maple syrup urine disease, but it is necessary to tell the midwife and the doctor there is a family history of injury in this case. You can take a test for the brothers of the child as soon as possible, in order to investigate the existence of injury in this case and to provide appropriate treatment.

The person may also wish to take into account genetic counseling, and to obtain support, information and counseling about genetic health conditions.