Carbohydrate 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. 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.

Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal.

These disorders are inherited. Newborn babies get screened for many 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.

Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.

Chest Pain

Having a pain in your chest can be scary. It does not always mean that you are having a heart attack. There can be many other causes, including:

• Other heart problems, such as angina
• Panic attacks
• Digestive problems, such as heartburn or esophagus disorders
• Sore muscles
• Lung diseases, such as pneumonia, pleurisy, or pulmonary embolism
• Costochondritis - an inflammation of joints in your chest

Some of these problems can be serious. Get immediate medical care if you have chest pain that does not go away, crushing pain or pressure in the chest, or chest pain along with nausea, sweating, dizziness or shortness of breath. Treatment depends on the cause of the pain.

Concussion

A concussion is a type of brain injury. It involves a short loss of normal brain function. It happens when a hit to the head or body causes your head and brain to move rapidly back and forth. This sudden movement can cause the brain to bounce around or twist in the skull, creating chemical changes in your brain. Sometimes it can also stretch and damage your brain cells.

Sometimes people call a concussion a "mild" brain injury. It is important to understand that while concussions may not be life-threatening, they can still be serious.

Concussions are a common type of sports injury. Other causes of concussions include blows to the head, bumping your head when you fall, being violently shaken, and car accidents.

Symptoms of a concussion may not start right away; they may start days or weeks after the injury. Symptoms may include a headache or neck pain. You may also have nausea, ringing in your ears, dizziness, or tiredness. You may feel dazed or not your normal self for several days or weeks after the injury. Consult your health care professional if any of your symptoms get worse, or if you have more serious symptoms such as:

• Convulsions or seizures
• Drowsiness or inability to wake up
• A headache that gets worse and does not go away
• Weakness, numbness, or decreased coordination
• Repeated vomiting or nausea
• Confusion
• Slurred speech
• Loss of consciousness

To diagnose a concussion, your health care provider will do a physical exam and will ask about your injury. You will most likely have a neurological exam, which checks your vision, balance, coordination, and reflexes. Your health care provider may also evaluate your memory and thinking. In some cases, you may also have a scan of the brain, such as a CT scan or an MRI. A scan can check for bleeding or inflammation in the brain, as well as a skull fracture (break in the skull).

Most people recover fully after a concussion, but it can take some time. Rest is very important after a concussion because it helps the brain to heal. In the very beginning, you may need to limit physical activities or activities that involve a lot of concentration, such as studying, working on the computer, or playing video games. Doing these may cause concussion symptoms (such as headache or tiredness) to come back or get worse. Then when your health care provider says that it is ok, you can start to return to your normal activities slowly.

Centers for Disease Control and Prevention

Craniofacial Abnormalities

Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person's face or head looks. These conditions may also affect other parts of the body.

Treatment depends on the type of problem. Plastic and reconstructive surgery may help the person's appearance.

Eye Movement Disorders

When you look at an object, you're using several muscles to move both eyes to focus on it. If you have a problem with the muscles, the eyes don't work properly.

There are many kinds of eye movement disorders. Two common ones are:

• Strabismus - a disorder in which the two eyes don't line up in the same direction. This results in "crossed eyes" or "walleye."
• Nystagmus - fast, uncontrollable movements of the eyes, sometimes called "dancing eyes"

Some eye movement disorders are present at birth. Others develop over time and may be associated with other problems, such as injuries. Treatments include glasses, patches, eye muscle exercises, and surgery. There is no cure for some kinds of eye movement disorders, such as most kinds of nystagmus.