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dehydrogenase

G6PD Deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them.

If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include:

A blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions.

NIH: National Library of Medicine

Newborn Screening

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

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.

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.

Lipid 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.

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.

Anemia

If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body.

Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction.

Conditions that may lead to anemia include:

Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache.

Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have.

NIH: National Heart, Lung, and Blood Institute

Heart Attack

Each year almost 800,000 Americans have a heart attack. A heart attack happens when blood flow to the heart suddenly becomes blocked. Without the blood coming in, the heart can't get oxygen. If not treated quickly, the heart muscle begins to die. But if you do get quick treatment, you may be able to prevent or limit damage to the heart muscle. That's why it's important to know the symptoms of a heart attack and call 911 if you or someone else is having them. You should call, even if you are not sure that it is a heart attack.

The most common symptoms in men and women are:

You may also have other symptoms, such as nausea, vomiting, dizziness, and lightheadedness. You may break out in a cold sweat. Sometimes women will have different symptoms then men. For example, they are more likely to feel tired for no reason.

The most common cause of heart attacks is coronary artery disease (CAD). With CAD, there is a buildup of cholesterol and other material, called plaque, on their inner walls or the arteries. This is atherosclerosis. It can build up for years. Eventually an area of plaque can rupture (break open). A blood clot can form around the plaque and block the artery.

A less common cause of heart attack is a severe spasm (tightening) of a coronary artery. The spasm cuts off blood flow through the artery.

At the hospital, health care providers make a diagnosis based on your symptoms, blood tests, and different heart health tests. Treatments may include medicines and medical procedures such as coronary angioplasty. After a heart attack, cardiac rehabilitation and lifestyle changes can help you recover.

NIH: National Heart, Lung, and Blood Institute

Infectious Mononucleosis

What is infectious mononucleosis (mono)?

Infectious mononucleosis (mono) is a disease caused by viruses.The most common cause is the Epstein-Barr virus (EBV). Mono is contagious, which means it can spread from person to person. It is common among teenagers and young adults, especially college students.

What causes infectious mononucleosis (mono)?

Mono can be caused by many different viruses. But it is most often caused by the Epstein-Barr virus (EBV). EBV is found all over the world. Most people get an EBV infection at some point in their lives, but only some of them will get the symptoms of mono. EBV infections often happen during childhood or when someone is a young adult. EBV infections in children usually do not cause symptoms. And when they do, it's hard to tell the difference between the symptoms of mono and the symptoms of other common childhood illnesses such as the flu. Teens and young adults who get EBV are more likely to have symptoms that are typical of mono.

EBV and the other viruses that cause mono are usually spread through body fluids, especially saliva (spit). This means that you can get it through kissing. That's why mono is sometimes called "the kissing disease." But you can also get these viruses if you share food, drinks, forks, spoons, or lip balm with someone who has mono. Other less common ways of getting an infection are through blood transfusions, organ transplants, and blood and semen during sexual contact.

What are the symptoms of infectious mononucleosis (mono)?

The symptoms of mono usually start four to six weeks after you get the infection. But they may start sooner in young children. The symptoms often develop slowly, and they may not all happen at the same time. They can include:

Most people get better in two to four weeks. However, some people may feel fatigued for several more weeks. Occasionally, the symptoms can last for six months or longer.

How is infectious mononucleosis (mono) diagnosed?

Your healthcare provider may diagnose mono based on your symptoms and a physical exam. The exam will include checking to see if your lymph nodes, tonsils, liver, or spleen are swollen. In some cases, your provider might also order a mono test to confirm the diagnosis.

What are the treatments for infectious mononucleosis (mono)?

If you have severe symptoms, your provider may suggest additional treatment based on which organs in your body are affected by the mono.

Antibiotics don't treat viral infections, so they do not help with mono. Some people do get bacterial infections such as strep throat along with mono. In that case, you probably need antibiotics to treat the bacterial infection. But you should not take penicillin antibiotics like ampicillin or amoxicillin. Those antibiotics can cause a rash in people who have mono.

Mono can cause an enlarged spleen, which could rupture and cause a medical emergency. To try to protect the spleen, providers recommend avoiding intense exercise and contact sports until you fully recover (about a month).

Can infectious mononucleosis (mono) be prevented?

There is no vaccine to protect against mono. To lower your chance of getting or spreading mono:

Centers for Disease Control and Prevention

Liver Diseases

Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons.

There are many kinds of liver diseases:

Symptoms of liver disease can vary, but they often include swelling of the abdomen and legs, bruising easily, changes in the color of your stool and urine, and jaundice, or yellowing of the skin and eyes. Sometimes there are no symptoms. Tests such as imaging tests and liver function tests can check for liver damage and help to diagnose liver diseases.

Pancreatic Diseases

The pancreas is a gland behind your stomach and in front of your spine. It produces juices that help break down food and hormones that help control blood sugar levels. Problems with the pancreas can lead to many health problems. These include:

The pancreas also plays a role in diabetes. In type 1 diabetes, the beta cells of the pancreas no longer make insulin because the body's immune system has attacked them. In type 2 diabetes, the pancreas loses the ability to secrete enough insulin in response to meals.

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