| Medical Dictionary |
A Medical Dictionary of Medical Terminology
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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. Chemicals in your digestive system (enzymes) 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. If you have a metabolic disorder, something goes wrong with this process.
Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They include oils, fatty acids, waxes, and cholesterol. If you have one of these disorders, you may not have enough enzymes to break down lipids. Or the enzymes may not work properly and your body can't convert the fats into energy. They cause a harmful amount of lipids to build up in your body. Over time, that can damage your cells and tissues, especially in the brain, peripheral nervous system, liver, spleen, and bone marrow. Many of these disorders can be very serious, or sometimes even fatal.
These disorders are inherited. Newborn babies get screened for some of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.
Enzyme replacement therapies can help with a few of these disorders. For others, there is no treatment. Medicines, blood transfusions, and other procedures may help with complications.
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.
Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your brain and spinal cord. Leukodystrophies damage the white matter of your CNS. The white matter includes:
When the white matter is damaged, it can slow down or block the signals between nerve cells. This can cause many different symptoms, including trouble with movement, vision, hearing, and thinking.
There are over 50 types of leukodystrophies. Some types are present at birth, while others may not cause symptoms until a child becomes a toddler. A few types mainly affect adults. Most types get worse over time.
What causes leukodystrophies?Leukodystrophies are caused by genetic changes. These changes are usually inherited, meaning that they are passed from parent to child.
What are the symptoms of leukodystrophies?The symptoms of leukodystrophies depend on the type; they can include a gradual loss of:
There can also be other symptoms, such as:
Leukodystrophies can be hard to diagnose because there are so many different types which can have different symptoms. Your health care provider may use many tools to make a diagnosis:
There is no cure for leukodystrophies. Treatment focuses on relieving symptoms and providing support. It may include:
Stem cell or bone marrow transplantation can be helpful for a few types of leukodystrophy.
One type of leukodystrophy, CTX, is treatable if it is diagnosed early. It is treated with chenodeoxycholic acid (CDCA) replacement therapy.
NIH: National Institute of Neurological Disorders and Stroke