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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:

• Leukodystrophies
• Phenylketonuria
• Tay-Sachs disease
• Wilson disease

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.

Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include:

• Tests on a few drops of blood from pricking the baby's heel. The tests look for inherited disorders. All states test for at least 30 of these conditions.
• A hearing test that measures the baby's response to sound
• A skin test that measures the level of oxygen in the blood. This can tell if the baby has a congenital heart defect.

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.

Gout is a common type of inflammatory arthritis. It causes pain, swelling, and redness in one or more joints. It usually happens as a flare, which can last for a week or two and then gets better. The flares often begin in your big toe or a lower limb.

Gout happens when too much uric acid (urate) builds up in your body over a long time. Uric acid is a waste product your body makes when it breaks down purines. Purines are substances that are in your body's tissues and in many foods.

When your body breaks down old cells or digests foods that contain purine, most of the uric acid that's made dissolves in your blood. Your kidneys filter the uric acid out of your blood, and it leaves your body in your urine (pee).

However, sometimes your body can make too much uric acid or does not remove enough of it. Then the uric acid levels build up in your body, including in your blood. Having too much uric acid in the blood is called hyperuricemia. It does not cause health problems for everyone. But in some people, uric acid forms needle-like crystals. They can form in your joints, which causes gout. The crystals can also cause kidney stones.

Calcium pyrophosphate arthritis, sometimes called pseudogout, is a related disease. It causes similar symptoms and is sometimes confused with gout. But it is caused by a buildup of calcium phosphate, not uric acid.

Many people develop gout. You are more likely to get it if you:

• Are male.
• Are older; it usually develops in middle age.
• Have obesity.
• Have certain health conditions, such as:
  • Heart failure
  • High blood pressure
  • Metabolic syndrome
  • Chronic kidney disease
  • Conditions that cause your cells to break down more quickly, such as psoriasis or some cancers
  • Rare genetic conditions that lead to increased uric acid
• Have a family history of gout.
• Have an unhealthy diet and eat foods that are rich in purines, such as red meat, organ meats, certain seafoods.
• Drink alcohol.
• Eat and drink lots of foods and beverages that contain fructose (a type of sugar).
• Take certain medicines, such as diuretics (water pills), low-dose aspirin, and some medicines that weaken your immune system.
• Take high amounts of niacin (vitamin B-3).

Gout usually happens in only one joint at a time. It is often found in the big toe, but can also affect other joints, including your other toes, ankle, and knee.

Gout flares often start suddenly at night, and the symptoms in the affected joint often include:

• Intense pain, which may be bad enough to wake you up
• Swelling
• Redness
• Warmth

The flares typically get better within a week or two. In between flares, you usually don't have symptoms. Some people may have flares often, while others may not have another flare for years. But over time, if left untreated, your flares may happen more often and last longer.

And if gout is untreated over long periods of time, you can develop tophi. Tophi are hard, uric acid deposits under the skin. They start out as painless, but over time, they can become painful. They can also cause bone and soft tissue damage and misshapen joints.

To find out if you have gout, your health care provider:

• Will take your medical history, which includes asking about your symptoms.
• Will do a physical exam, including examining the affected joint(s).
• May order various tests, such as:
  • A test of a sample of fluid from one of your painful joints. The fluid is examined under a microscope and is checked for uric acid crystals.
  • A uric acid blood or urine test.
  • An ultrasound or special CT scan to look for uric acid crystal buildup in the affected joint and check for other conditions that may be causing the symptoms.

There are effective treatments for gout. Which treatment you get will depend on your symptoms and the cause of your gout. The goals of your treatment will be to:

• Reduce the pain from gout flares, by using medicines such as:
  • Nonsteroidal anti-inflammatory drugs (NSAIDs) like ibuprofen.
  • Acetaminophen and the anti-inflammatory drug colchicine.
  • Oral or injected corticosteroids.
• Prevent future flares, for example by:
  • Making lifestyle changes such as losing weight, limiting alcohol, and avoiding foods high in purines. If you are taking medicines that can cause high uric acid in the blood, your provider may suggest stopping or changing those medicines.
  • If needed, taking medicines to lower uric acid in the blood.
• Prevent tophi and kidney stones, for example with medicines that lower uric acid in the blood.

With early diagnosis, treatment, and lifestyle changes, gout is one of the most controllable forms of arthritis. Treatment and lifestyle changes may help people avoid gout flares, lessen their symptoms, and sometimes even become gout free.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

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.

Mitochondrial diseases are a group of metabolic disorders. Mitochondria are small structures that produce energy in almost all of your cells. They make it by combining oxygen with the fuel molecules (sugars and fats) that come from your food. When the mitochondria are defective, the cells do not have enough energy. The unused oxygen and fuel molecules build up in the cells and cause damage.

The symptoms of mitochondrial disease can vary. It depends on how many mitochondria are defective, and where they are in the body. Sometimes only one organ, tissue, or cell type is affected. But often the problem affects many of them. Muscle and nerve cells have especially high energy needs, so muscular and neurological problems are common. The diseases range from mild to severe. Some types can be fatal.

Genetic mutations cause these diseases. They usually happen before age 20, and some are more common in infants. There are no cures for these diseases, but treatments may help with symptoms and slow down the disease. They may include physical therapy, vitamins and supplements, special diets, and medicines.