Lipidoses: Causes and symptoms

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Approximately one in every 40,000 males is born with Fabry's disease. This condition has an X-linked, recessive pattern of inheritance, meaning that the defective gene is carried on the X chromosome. A female who carries a defective recessive gene on one of her two X chromosomes has a 50% chance of passing the defective gene to her sons who will develop the disorder associated with the defective gene (a male receives one X chromosome from his mother and one Y chromosome from his father). She also has a 50% chance of passing the defective recessive gene to her daughters who will be carries of the disorder (like their mother). Some female carries of Fabry's disease show mild signs of the disorder, especially cloudiness of the cornea.

The gene that is defective in Fabry's disease causes a deficiency of the enzyme alpha-galactosidase A. Without this enzyme, fatty compounds starts to line the blood vessels. The collection of fatty deposits eventually affects blood vessels in the skin, heart, kidneys, and nervous system. The first symptoms in childhood are pain and discomfort in the hands and feet brought on by exercise, fever, stress, or changes in the weather. A raised rash of dark red-purple spots is common, especially on skin between the waistline and the knees. Other symptoms include a decreased ability to sweat and changes in the cornea or outer layer of the eye. Although the disease begins in childhood, it progresses very slowly. Kidney and heart problems develop in adulthood.

Gaucher (pronounced go-shay) disease is the most common of the lipid storage disorders. It is found in populations ulations all over the world (20,00 to 40,000 people have a type of the disease), and it occurs with equal frequency in males and females. Gaucher disease has a recessive pattern of inheritance, meaning that a person must inherit a copy of the defective gene from both parents in order to have the disease. The genetic defect causes a deficiency of the enzyme glucocerebrosidase that is responsible for breaking down a certain type of fat and releasing it from fat cells. These fat cells begin to crowd out healthy cells in the liver, spleen, bones, and nervous system. Symptoms of Gaucher disease can start in infancy, childhood, or adulthood.

Three types of Gaucher disease have been identified, but there are many variations in how symptoms develop. Type 1 is the most common and affects both children and adults. It occurs much more often in people of Eastern European and Russian Jewish (Ashkenazi) ancestry, affecting one out of every 450 live births. The first signs of the disease include an enlarged liver and spleen, causing the abdomen to swell. Children with this condition may be shorter than normal. Other symptoms include tiredness, pain, bone deterioration, broken bones, anemia, and increased bruising. Type 2 Gaucher disease is more serious, beginning within the first few months after birth. Symptoms, which are similar to those in Type 1, progress rapidly, but also include nervous system damage. Symptoms of Type 3 Gaucher disease begin during early childhood with symptoms like Type 1. Unlike Type 2, the progress of the disease is slower, although it also includes nervous system damage.

Krabbe's disease is caused by a deficiency of the enzyme galactoside beta-galactosidase. It has a recessive pattern of inheritance and is believed to occur in 1 of 40,000 births in the United States. This condition, which is also called globoid cell leukodystrophy or Krabbe leukodystrophy, is characterized by acute nervous system degeneration. It develops in early infancy with initial symptoms of irritability, vomiting and episodes of partial unconsciousness. Symptoms progress rapidly to seizures, difficulty swallowing, blindness, deafness, mental retardation, and paralysis.

At least five different forms of Niemann-Pick disease (NPD) have been identified. The different types seem to be related to the activity level of the enzyme sphingomyelinase. In patients with Types A and B NPD, there is a build up of sphingomyelin in cells of the brain, liver, spleen, kidney and lung. Type A is the most common form of NPD and the most serious, with death usually occurring by the age of 18 months. Symptoms develop within the first few months of life and include poor appetite, failure to grow, enlarged liver and spleen, and the appearance of cherry red spots in the retina of the eye. Type B develops in infancy or childhood with symptoms of mild liver or spleen enlargement and lung problems. Some adults with this form (Type E) may also show a loss of muscle coordination. Types C or D NPD are related to cholesterol transfer out of cells. Children with Types C or D grow normally in early childhood, but eventually develop difficulty in walking and loss of muscle coordination. Ultimately, the nervous system becomes severely damaged and these patients die. Type C occurs in any population, while Type D has been identified only in patients from Nova Scotia, Canada.

Refsum's disease has a recessive pattern of inheritance and affects populations from Northern Europe, particularly Scandinavians most frequently. It is due to a deficiency of phytanic acid hydroxylase, an enzyme that breaks down a fatty acid called phytanic acid. This condition affects the nervous system, eyes, bones, and skin. Symptoms, which usually appear by age 20, include vision problems [retinitis pigmentosa and rhythmic eye movements (nystagmus)], loss of muscle coordination, loss of sense of smell (anosmia), pain, numbness, and elevated protein in the cerebrospinal fluid.

Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A). The defective gene that causes this disorder is found in roughly 1 in 250 people in the general population. However, certain populations have significantly higher rates of TSD. French-Canadians living near the St. Lawrence River and in the Cajun regions of Louisiana are at higher risk of having a child with TSD. The highest risk seems to be in people of Eastern European and Russian Jewish (Ashkenazi) descent. Tay-Sachs disease has a recessive pattern of inheritance, and approximately 1 in every 27 people of Jewish ancestry in the United States carries the TSD gene. Symptoms develop in infancy and are due to the accumulation of a fatty acid compound in the nervous system. Early symptoms include loss of vision and physical coordination, seizures, and mental retardation. Eventually, the child develops problems with breathing and swallowing. Blindness, paralysis, and death follow.

Wolman's disease is caused by a genetic defect (with a recessive pattern of inheritance) that results in deficiency of an enzyme that breaks down cholesterol. This causes large amounts of fat to accumulate in body tissues. Symptoms begin in the first few weeks of life and include an enlarged liver and spleen, adrenal calcification (hardening of adrenal tissue due to deposits of calcium salts), and fatty stools.

— Altha Roberts Edgren