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Maple syrup disease; Everything you need to know about this genetic disease

Study guide

Maple syrup is a rare but very dangerous inherited disease. This disease is also known as maple syrup urine disease and it is named because of the sweet smell of the urine of people with it. Usually our bodies break down food proteins such as fish and meat into amino acids. People with maple syrup urinary tract disease are unable to digest some of these amino acids, which can lead to dangerous accumulation of these substances in the body and urine. It is important to detect and control this disease in infancy. Follow us until the end of the article to get acquainted with the symptoms and care of this disease.

What is Maple Syrup Disease?

Maple syrup urine disease is a congenital, metabolic disease that prevents the breakdown of certain amino acids. After eating protein in the diet, amino acids remain in the body. Certain enzymes digest these amino acids to be used to maintain the body’s function. If some of these enzymes are missing or not working properly, the amino acids and their products, the ketoacids, accumulate in the body. Accumulation of these substances causes the following:

  • Damage to nerves;
  • Coma;
  • Dangerous complications.

In maple syrup disease, the body does not have an enzyme called branched-chain alpha-ketoacid dihydrogenase (BCKDC). This enzyme is responsible for breaking down the three important amino acids found in high-protein foods such as meat, eggs and milk.

If maple syrup is not treated, it can cause severe physical and neurological damage to the patient. This disease can be controlled by restricting the diet. The success of this treatment is also checked by regular blood tests. With early diagnosis and intervention, the chances of successful treatment increase.

Types of maple syrup disease

There are 4 types of this disease. All four types are inherited genetic diseases and differ in enzyme activity, severity and age of onset.

1. Classic maple syrup disease

This type of disease is the most common and severe type. Enzyme activity in the affected person is low and less than 2% of its normal activity. Symptoms of the disease appear in infants a few days after birth. The disease begins with the breakdown of protein in breast milk.

۲. Middle maple syrup disease

This type of disease is very rare and has different symptoms that occur at different ages. In people with this type of disease, maple syrup has more enzyme activity than the classic type. This activity reaches 3 to 8% of normal activity.

3. Intermittent maple syrup disease

This type of disease does not interfere with the physical and mental development of the affected person. Symptoms usually appear by the age of 1 or 2 and are less severe than the classic disease. People with the disease have good enzyme activity, which reaches 8 to 15 percent of normal activity. The first reaction to an illness usually occurs when a child experiences stress, illness, or an abnormal increase in protein.

4. Thiamine-dependent maple syrup disease

This rare condition is cured by taking large amounts of thiamine or vitamin B-1. Symptoms of the disease usually appear after infancy. Although thiamine may be helpful, dietary restrictions should be applied.

Symptoms of maple syrup disease

The early symptoms of this disease are:

  • Lethargy;
  • Decreased appetite;
  • Weight Loss;
  • Ability to suck less;
  • Irritability;
  • Sweet ear discharge, sweat and urine;
  • Irregular sleep pattern;
  • Intermittent periods of muscle stiffness and lethargy;
  • Crying like a screamer.

Symptoms of thiamine-dependent and middle maple syrup:

  • Convulsions;
  • Neurological defect;
  • Developmental delay;
  • Eating disorders;
  • Low growth;
  • The sweet smell of earwax, sweat and urine.

Who is at risk for maple syrup urine disease?

The incidence of this disease is equal in men and women and is about 1 in 185,000 people. Each person’s risk of developing the disease depends on whether or not their parents are infected. If both parents have the disease:

  • There is a 25% chance that the patient will receive both defective genes and develop the disease.
  • It has a 50% chance of receiving a defective gene and carrying it.
  • There is a 25% chance that he will receive a normal gene from each parent and be healthy.

If a person receives two healthy genes, he will not pass the disease on to his children. If both parents have the disease gene, their child may be a carrier. This child can pass the gene on to their children in the future.

Diagnosis of maple syrup disease

The disease can be diagnosed in the first 5 days of infancy with a blood test. In this blood test, a few drops of blood are taken from the heel of a 3 to 5 day old baby, which can be used to diagnose more than 30 types of disorders.

Diagnosis of maple syrup urine at birth is essential to prevent permanent damage. If both parents carry the disease gene but the genetic test is negative, your doctor may order more tests to prevent symptoms.

If symptoms are seen after infancy, the disease can be diagnosed by a urine or blood test. Urine tests can show high concentrations of ketoacids, and blood tests show high concentrations of amino acids. It can also be diagnosed by analyzing enzymes in white blood cells and skin cells.

Diet of patients with this disease

Children with maple syrup urinary incontinence are referred to a nutritionist and given a low-protein diet. These people also need medication. Their diet is designed to reduce the amount of amino acids they consume.

High protein foods that Should be limited These are:

  • Meat;
  • Fish;
  • Cheese;
  • egg;
  • beans;
  • Brain.

The nutritionist will make detailed plans and recommendations for the baby, as he or she will need some of these substances to grow. Breast milk and formula should be monitored and then given to the baby.

Normal formula contains amino acids that should be limited in the baby’s diet. Affected children should use special formula that contains all the vitamins, minerals and other beneficial amino acids.

People with maple syrup disease should spend the rest of their lives on a special low-protein diet. These people need to learn the limitations of their diet as adults and contact a nutritionist.

Complications of maple syrup disease

Complications of maple syrup disease

If left untreated, the complications of the disease can be severe and even fatal. Even babies who are being treated may sometimes feel very sick, which is called a metabolic crisis.

Metabolic crisis occurs when the amount of destructive amino acids in the body increases rapidly. If left untreated, it can lead to severe physical and neurological damage. This crisis is usually characterized by the following symptoms:

  • Severe fatigue and lethargy;
  • Loss of consciousness;
  • Irritability;
  • Vomit.

If maple syrup disease is not diagnosed or the metabolic crisis is not treated, it will lead to these severe side effects:

  • Convulsions;
  • Brain inflammation;
  • Decreased blood flow to the brain;
  • Metabolic acidosis (severe increase in acidic products in the blood);
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These side effects lead to the following:

  • Severe nerve damage;
  • Mental disability;
  • Blindness;
  • Inability to contract muscle.

These dangerous complications can be more severe and lead to death, especially if left untreated.

The best treatments for urinary tract disease Maple syrup

If taken quickly, the disease will not lead to serious health problems or mental disabilities. Primary treatment for this condition involves lowering the levels of harmful amino acids in the blood.

This treatment is usually done by intravenous injection of amino acids that are not harmful to the baby. These amino acids combine with glucose to provide more calories. This treatment forces the body to consume and reduce the amount of harmful amino acids in the body.

A nutritionist and metabolism specialist should be consulted to plan a long-term treatment plan. The goal of this program is to provide all the proteins and nutrients necessary for a healthy growth of the child. In this program, the consumption of harmful amino acids is reduced.

Prevention of maple syrup disease

Maple syrup urine disease is an inherited disease, so there is no way to prevent it. Consulting a genetic counselor can determine if your child is at risk for the disease. By having a genetic test, you can find out if you are a carrier, and by testing your baby’s DNA during pregnancy, you can prevent complications.

Concluding remarks

Children with maple syrup disease can lead normal, active lives. Of course, these people need to be monitored and follow a special diet to avoid metabolic crises. Despite care, these crises can still occur, so it is important to know the symptoms and see a doctor immediately if you notice any of them.

Warning! This article is for educational purposes only and you need to consult your doctor or specialist to use it. more information




Maple syrup disease; Everything you need to know about this genetic disease

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