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Treatment, which is simple, safe, and inexpensive, involves removing blood to reduce the level of iron. Depending on the degree of your iron overload, you will probably have a pint of blood taken once or twice a week for several months to a year or more. After every four blood donations (called phlebotomies), you will have a blood test to measure the level of iron in your blood. Once your iron level is in the low-to-normal range, you must try to maintain the level by giving a pint of blood every 1 to 4 months throughout your life. An annual blood test can help determine how frequently you need to give blood.

Your doctor will recommend that you take daily vitamin supplements that do not contain iron and limit your consumption of vitamin C to 500 milligrams daily (because vitamin C increases the body’s absorption of iron). You should also limit your intake of alcohol to avoid liver damage.

Phenylketonuria

Phenylketonuria (PKU) is an inborn error of metabolism, a genetic disorder in which the body cannot process the amino acid phenylalanine. Amino acids are the building blocks of proteins, which the body needs to develop and function. Normally, excess amounts of the amino acids in foods we eat are broken down or excreted. However, in people with PKU, phenylalanine is not processed normally and it builds up in the blood, causing brain damage. Phenylalanine is present in protein-containing foods such as milk products, eggs, meat, and fish.

Symptoms

Newborns with PKU may appear normal for the first several weeks or months of life. However, if the disease is not detected and treated, they gradually lose interest in their surroundings and eventually begin to show signs of mental impairment. By the time they are 1 year old, they may have delayed mental development. Untreated children may have jerky arm or leg movements, be restless and destructive, and may give off a musty odor from the accumulation of phenylalanine in their body. Some children with PKU have seizures (see page 686). Children with PKU generally have lighter hair, skin, and eye color than other members of their family.

Diagnosis

All states require testing of newborns for PKU shortly after birth (see page 954). A few drops of blood are taken from a needle prick in the baby’s heel, and the blood is analyzed in a laboratory for phenylalanine. If the level of phenylalanine is higher than normal, the doctor will recommend more sensitive tests to confirm the diagnosis.

Treatment

If your child is found to have PKU, the doctor will prescribe a diet that severely restricts foods containing phenylalanine. (Some phenylalanine must be in the diet because a certain amount of the amino acid is essential.) Children with PKU can be breast-fed or given regular formula in limited amounts supplemented with a special phenylalanine-free formula. After a baby begins to eat specially selected solid foods, he or she must continue to consume the special formula as his or her major source of protein. People with PKU need to see their doctor regularly for tests to measure the level of phenylalanine in their blood and to make adjustments in their diet when necessary. They will need to follow the restricted diet throughout life, but will otherwise be able to lead a normal life.

If you are a woman who has PKU and you are thinking about becoming pregnant, talk to a genetic counselor (see page 952). You need to be especially conscientious about following the special diet before you become pregnant and during your pregnancy because a high level of phenylalanine in your blood could cause brain damage in the fetus.

Gaucher Disease

Gaucher disease is a rare, potentially fatal inborn error of metabolism characterized by reduced levels of a protein necessary for breaking down a particular fat in the body. This fat then accumulates in cells (called Gaucher cells), displacing healthy, normal cells in bone marrow and causing enlargement of the liver and spleen, organ dysfunction, and bone deterioration.

Gaucher disease has three different