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forms—type 1, type 2, and type 3—all of which follow an autosomal recessive pattern of inheritance (see page 958). The most common form, type 1, can develop at any age and does not involve the central nervous system. Type 1 can affect people of all ethnic groups, but it is the most common genetic disease among Ashkenazi Jews. Types 2 and 3 involve the central nervous system. Type 2, which occurs during infancy, is the most severe, usually causing death by age 2. Type 3 generally progresses slowly, with increasing damage to the nervous system that leads to a decline in mental and physical functioning. Usually, only one form of the disease will affect a particular family.

Symptoms

The symptoms of all three forms of Gaucher disease can vary widely from one person to another. Type 1 can cause bone problems including pain, reduced bone density and strength, fractures, and bone cell death. The disease can also affect the blood, causing anemia (see page 610), which can lead to general weakness and failure to thrive, and blood-clotting problems, which can cause easy bruising and bleeding. A person with this form of the disease also may have an enlarged liver, which can lead to liver dysfunction, and an enlarged spleen. Children with type 1 may have growth retardation, and adolescents may have delayed puberty. Fatigue and chronic pain can compromise the quality of life of people with Gaucher disease.

Type 2, which occurs in infants, causes a swollen abdomen from spleen and liver enlargement, mild anemia, inability to swallow, and a characteristic bending backward of the head. These children frequently have seizures, and most die by age 2.

Type 3 involves the central nervous system. People with type 3 may have poor coordination, decreased sensation and muscle function, abnormal eye movement, and behavior changes. Their mental function deteriorates gradually, usually over many years.

Diagnosis

Doctors can diagnose Gaucher disease before birth using amniocentesis (see page 510) or chorionic villus sampling, or CVS (see page 511). Prenatal testing is usually done only if a couple has previously had an affected child and therefore has a 25 percent chance of having another child with Gaucher disease. Before having children, some Jewish couples choose to be tested for the genetic mutation that most often causes Gaucher disease. If both partners are found to carry the gene, they may choose to have prenatal testing during a pregnancy to determine if the fetus has two copies of the Gaucher gene (one from each of them) and therefore will have the disease.

In a person who has symptoms of Gaucher disease, a doctor may take a sample of bone marrow (tissue inside bones that manufactures all the different types of blood cells). He or she withdraws the fluid with a needle and has it analyzed under a microscope for the presence of Gaucher cells, which are large cells filled with fat. The doctor may also perform a blood test to measure the deficient level of the protein.

Treatment

To treat Gaucher disease, doctors replace the missing protein with a synthetic one, which is given intravenously (through a vein). This treatment is very effective in reversing the enlargement of the liver and spleen, preventing bone disease, and improving the quality of life of people with type 1 disease. Treatment may not be as effective for people who have type 2 or type 3 Gaucher disease. For people with any form of Gaucher disease, doctors recommend regular examinations, blood tests, and imaging procedures to monitor the progression of the disease and the effectiveness of the treatment.

Galactosemia

Galactosemia is an inborn error of metabolism that results from the partial or complete lack of an enzyme (called galactose 1-phosphate uridyltransferase, or GALT) that converts the sugar galactose into glucose (which the body uses for energy). Normally, when a person eats a food containing the sugar lactose (such as dairy products), the body breaks down the lactose into galactose and glucose. If galactose cannot be converted into glucose, it accumulates