Medical Dictionary |
A Medical Dictionary of Medical Terminology
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Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process phenylalanine (Phe). Phe is an amino acid, a building block of proteins. It is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early.
The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas, and cereals. Nutritional formulas provide the vitamins and minerals you can't get from their food.
Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important to stay on the diet for the rest of your life.
NIH: National Institute of Child Health and Human Development
Congenital heart defects (CHDs) are problems with the structure of the heart. "Congenital" means that that the problems are present at birth. These defects happen when a baby's heart doesn't develop normally during pregnancy. Congenital heart defects are the most common type of birth defect.
Congenital heart defects can change the way the heart pumps blood. They may make blood flow too slowly, go the wrong way, or block it completely.
There are many types of congenital heart defects. They can happen in one or more parts of the heart. The most common types are:
Congenital heart defects can range from very mild problems that never need treatment to life-threatening problems at birth. The most serious congenital heart defects are called critical congenital heart disease. Babies with these defects usually need surgery in the first year of life. But the symptoms of milder heart defects may not show up until childhood or adulthood.
What causes congenital heart defects?Researchers often don't know what causes congenital heart defects. They do know that changes in a baby's genes sometimes cause a heart defect. The changed genes may come from the parents, or the changes may happen during pregnancy.
Who is more likely to have a baby with a congenital heart defect?Several things may increase the chance that your baby has a congenital heart defect, such as:
Congenital heart defects don't cause pain. The signs and symptoms are different, depending on the type and number of defects and how serious they are.
Common signs and symptoms of congenital heart defects include:
Congenital heart defects don't always cause other problems. If they do, which problems you have would depend on the type and number of defects and how serious the defects are.
Children with congenital heart defects are more likely to:
People with congenital heart defects may develop other health conditions, including:
Treatment depends on the type of congenital heart defect and how serious it is. Possible treatments include:
All children and adults who have congenital heart defects need regular follow-up care from a cardiologist (a doctor who specializes in heart diseases) throughout their life, even if their defect was repaired.
Some people may need several heart surgeries or catheterizations over the years. They may also need to take medicines to help their hearts work as well as possible.
NIH: National Heart, Lung, and Blood Institute
Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include:
These tests look for serious medical conditions. If not treated, some of these conditions can cause lifelong health problems. Others can cause early death. With early diagnosis, treatment can begin right away, before serious problems can occur or become permanent.
If a screening shows that your baby might have a condition, the health care provider or the state health department will call you. It is important to follow up quickly. Further testing can verify whether your baby has the condition. If so, treatment should start right away.
NIH: National Institute of Child Health and Human Development
Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body. If you have a metabolic disorder, something goes wrong with this process.
One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells. These problems cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems.
These disorders are usually inherited. A baby who is born with one may not have any symptoms right away. Because the disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get screened for many of them, using blood tests.
Treatments may include special diets, medicines, and supplements. Some babies may also need additional treatments if there are complications.
A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.
Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors.
Some examples of genetic brain disorders include:
Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms. Some are life-threatening.
Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat.
A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy.
You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.