What are metabolic disorders?
Metabolism breaks down food into its simple ingredients: protein, carbohydrates and fats. Metabolic disorders occur when these normal processes are affected. Metabolic disorders may be inherited, in this case they are also called congenital metabolic disorders, or they may be diagnosed in your lifetime.
There are many metabolic disorders, and they are common in the United States. For example, diabetes is a metabolic disorder that affects 26 million Americans. Phenylketonuria is an example of a metabolic disorder caused by the inability to break down the amino acid phenylalanine, one of the basic proteins.
Diabetes is a disease in which the pancreas does not produce enough insulin to maintain blood sugar levels, which is a metabolic disorder of sugar metabolism. An example of a metabolic disorder that affects fat metabolism is gout disease, which is characterized by a deficiency of the enzyme glucocorticosteroid.
Metabolic disorders can be serious or chronic, including liver or respiratory disease, cancer, chronic obstructive pulmonary disease (including COPD, emphysema, and chronic bronchitis) and HIV / AIDS. Symptoms of metabolic disorders vary from person to person and type of problem.
Some metabolic disorders cause debilitating symptoms that can be managed with medications and lifestyle changes, while others can cause severe and life-threatening symptoms, such as respiratory problems, trauma and organ failure. Some hereditary metabolic disorders may require long-term nutritional supplementation and treatment, while metabolic disorders caused by another disease or condition are often resolved once the underlying condition has been treated.
When diagnosing a metabolic disorder, we usually check to see if a patient exhibits at the following symptoms:
A large waist; Carrying excess fat in your waistline, in particular, is a major risk factor. This means at least 35 inches in women and 40 inches in men.
High triglyceride levels; It is determined by a blood test used to calculate the level of triglycerides, a type of cholesterol in your blood. Levels are higher when your body consumes more fat than it needs. We are looking for doses above 150 milligrams or 1.7 grams per liter.
Reduced HDL or “good” cholesterol; In your body, there is good fat and bad cholesterol. Bad cholesterol builds up in your arteries, while good cholesterol is absorbed and eliminated, preventing bad cholesterol from forming in your arteries. We are looking for levels that are less than 40 milligrams per deciliter in men and less than 50 in women.
Increased blood pressure; High blood pressure, or hypertension, is the strength of your blood against the walls of your arteries that, in the long run, can cause health problems, usually heart disease. This problem develops slowly over many years, so it is important to check your blood pressure regularly. We are looking for levels of 130/85 mm Hg or higher.
Fasting raised blood sugar; A fasting blood test is a blood test taken when you have nothing to eat for a long time, which is usually done before breakfast. Since your blood sugar is usually at its peak one hour after you eat, doing a blood test when you are not eating gives the most accurate results. We worry when your levels are above 100 milligrams per deciliter.
There are hundreds of inherited metabolic disorders, caused by different genetic defects. Examples include:
- Metachromatic leukodystrophy
- Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS)
- Tay-Sachs disease
- Familial hypercholesterolemia
- Gaucher disease
- Hunter syndrome
- Krabbe disease
- Maple syrup urine disease
The following factors increase the chances of developing metabolic syndrome:
- Age; Your risk of metabolic syndrome increases with age.
- Obesity; Being overweight, especially in your stomach, increases the risk of metabolic syndrome.
- Diabetes; If you have gestational diabetes (gestational diabetes) or you have a family history of type 2 diabetes you are more likely to develop metabolic syndrome.
- Other diseases; The risk of your metabolic syndrome is higher if you occasionally have non-alcoholic liver disease, polycystic ovary disease or sleep apnea.
Having a metabolic disorder can increase your risk of developing:
Type 2 diabetes; If you do not make lifestyle changes to control your excess weight, you may develop insulin resistance, which can lead to high blood sugar levels. Finally, insulin resistance can lead to type 2 diabetes.
Heart disease; High cholesterol and high blood pressure can contribute to artificial growth in your arteries. These plaques constrict and harden your arteries, which can lead to heart attack or stroke.
If I have metabolic syndrome, what health problems might develop?
High levels of insulin and glucose are linked to many negative changes in the body, including:
- Damage to the membranes of blood vessels and other arteries, an important step towards the development of heart disease or stroke
- Changes in the ability of the kidneys to remove salt, causing high blood pressure, heart disease and stroke
- Increased triglyceride levels, leading to a higher risk of developing cardiovascular disease
- Increased risk of blood formation, which can clog arteries and cause heart attacks and strokes
- Reduce insulin production, which may signal the onset of type 2 diabetes, a disease that is associated with a higher risk of heart attack or stroke. Uncontrolled diabetes is also associated with eye, vascular, and kidney problems.
- It is fatty liver, which is sometimes associated with inflammation of the liver (non-alcoholic seatohepatitis, or NASH). If left untreated, NASH can lead to cirrhosis and liver disease.
Diagnosis and Tests of metabolic disorders
1. Comprehensive Metabolic Panel
A complete metabolic group (CMP) is a test that measures various substances in your blood. It provides important information about your body’s chemical balance and metabolism. Metabolism is how the body uses food and energy. CMP includes tests for the following:
- Glucose, a type of sugar and an important source of energy in your body.
- Calcium is one of the most important minerals in the body. Calcium is essential for the proper functioning of your arteries, muscles and heart.
- Sodium, potassium, carbon dioxide and chloride. These charge electrolytes, minerals and electricity, which help regulate water levels and the balance of acids and bases in your body.
- Albumin, a protein produced in the liver.
- A total protein, which measures the total amount of protein in the blood.
- ALP (alkaline phosphatase), ALD (alanine transaminase) and AST (aspartate aminotransferase). These are different enzymes produced by the liver.
- Prepirin, a waste product produced by the liver.
- Bun (blood urea nitrogen) and creatine, wastes are removed from your blood and kidneys.
What is it used for?
A CMP is used to check several body functions and processes, including:
- Liver and kidney health
- Blood sugar levels
- Blood protein levels
- Acid and base balance
- Fluid and electrolyte balance
2. Lactic Acid Test
This test measures the level of lactic acid in your blood called lactate. Lactic acid is a substance made up of muscle tissue and red blood cells that carries oxygen from your lungs to other parts of your body. Generally, the level of lactic acid in the blood is low. Lactic acid levels rise as oxygen levels decrease. Low oxygen levels can be caused by the following:
- Strenuous exercise
- Heart failure
- Severe infection
- Shock, a dangerous condition that limits blood flow to your organs and tissues
Why is it used?
Lactic acid testing is often used to detect lactic acid. The test can use:
- Helps to know if enough oxygen is going to the tissues of the body
- Helps diagnose sepsis, a life-threatening result of bacterial infections
If encephalitis is suspected, it can help determine if it is caused by a bacterium or a virus. Meningitis is a severe infection of the brain and spinal cord. A lactate test in cerebrospinal fluid is used to determine the type of infection by a blood test for lactic acid.
3. Newborn Screening
Have your child have diagnostic tests before leaving the hospital. There may be different dimensions depending on the situation in which you live. They are included
- Tests on the blood of a few drops of burning baby’s heels. Experiments look at hereditary issues. All states test at least 30 conditions.
- An auditory test that measures a child’s response to sound
- A skin test that measures the level of oxygen in the blood. It can detect if a child has a congenital heart defect.
These tests show serious health conditions. If left untreated, some of these conditions can lead to health problems. Some can cause premature death. With an early diagnosis, treatment can begin immediately before serious complications occur or persist.
If a diagnosis shows that your child has this condition, a health care provider or government health department will call you. It is important to follow up quickly. Further testing can confirm if your baby has this condition. If so, treatment should begin immediately.
How are metabolic disorders treated?
Treatment for metabolic disorders begins with seeking medical help from your healthcare provider. The method of treatment for metabolic disorders depends on the specific problem. Congenital metabolic disorders are often treated with nutrition and support counseling, routine assessments, physical therapy and other care options. Available treatments for metabolic disorders include adjusting the metabolic balance by changing the cause and administering medications.
Treatment options for metabolic disorders
Multiple treatment options are available for inherited metabolic disorders. Examples include:
- Mineral supplementation
- Nutritional counseling
- Physical therapy
- Surgery to relieve pain or symptoms
- Vitamin supplementation
- Bone marrow transplantation
- Enzyme replacement therapy in selected patients
- Gene therapy in selected patients
- Medications to reduce symptoms, such as pain or low blood sugar
Some of the ways to reduce risk of metabolic disorders
Try to lose weight by eating a healthy diet if you are overweight; 5% to 10% of body weight is healthy and weight loss will help restore your body’s ability to recognize insulin and reduce the chance of getting sick. Becomes a serious disease. This can be done with the help of nutrition, exercise or even weight loss medications as prescribed by your doctor.
Exercise; Increased activity will only improve insulin sensitivity. Aerobic exercise such as brisk walking for 30 minutes daily can promote weight loss, improve blood pressure and triglyceride levels and reduce the risk of diabetes. Many health care providers recommend 150 minutes of aerobic exercise each week. Exercise can reduce the risk of heart disease without even losing weight. Any increase in physical activity is important, even for those who cannot do 150 minutes of activity per week.
Nutritional changes; Keep foods that do not contain more than 50 percent of total calories of carbohydrates. The source of carbohydrates is whole grains, i.e. whole grain bread and brown rice. Whole grains and legumes, fruits and vegetables allow you to get more nutritious fiber. Eat red meat and chicken down. Instead, eat more fish. Thirty percent of your daily calories should come from fat. Use healthy oils such as canola oil, olive oil, flaxseed oil and nutmeg.
What are some of the metabolic disorders?
Problems with untreated metabolism can be serious, even life-threatening in some cases. You can help reduce your risk of serious complications by following your treatment plan and your healthcare professional structure especially for you. Problems with metabolic disorders include
- Organ failure or dysfunction
- Seizures and tremors
- Unconsciousness and coma.