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Amino Acid Metabolism Disorders

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.

Drug Reactions

Most of the time, medicines make our lives better. They reduce aches and pains, fight infections, and control problems such as high blood pressure or diabetes. But medicines can also cause unwanted reactions, such as drug interactions, side effects, and allergies.

What is a drug interaction?

A drug interaction is a change in the way a drug acts in the body when taken with certain other drugs, foods, or supplements or when taken while you have certain medical conditions. Examples include:

Interactions could cause a drug to be more or less effective, cause side effects, or change the way one or both drugs work.

What are side effects?

Side effects are unwanted, usually unpleasant, effects caused by medicines. Most are mild, such as a stomachache, dry mouth, or drowsiness, and go away after you stop taking the medicine. Others can be more serious. Sometimes a drug can interact with a disease that you have and cause a side effect. For example, if you have a heart condition, certain decongestants can cause you to have a rapid heartbeat.

What are drug allergies?

Drug allergies are another type of reaction. They can range from mild to life-threatening. Skin reactions, such as hives and rashes, are the most common type. Anaphylaxis, a serious allergic reaction, is less common.

How can I stay safe when taking medicines?

When you start a new prescription or over-the-counter medicine, make sure you understand how to take it correctly. Know which other medicines, foods, and supplements you need to avoid. Always talk to your health care provider or pharmacist if you have questions about your medicines.

Genetic Brain Disorders

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.

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