Autosomal recessive inheritence
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Niemann-Pick Disease

Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain. more...

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Niemann-Pick Disease
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There are four variants of Nieman-Pick disease based on the genetic cause and the symptoms exhibited by the patient. All variants are inherited in a autosomal recessive pattern.

Mutations in the NPC1, NPC2, and SMPD1 genes cause Niemann-Pick disease.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers of Niemann-Pick.


Types A and B

Type A Niemann-Pick disease begins during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to thrive, and progressive deterioration of the nervous system. Children affected by this condition generally do not survive past early childhood. Niemann-Pick disease, type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 people. The incidence for other populations is unknown.

Type B disease may include signs of hepatosplenomegaly, growth retardation, and problems with lung function including frequent lung infections. Other signs include blood abnormalities such as abnormal cholesterol and lipid levels, and low numbers of blood cells involved in clotting (platelets). People affected by this type of Niemann-Pick disease usually survive into adulthood. Niemann-Pick disease, type B occurs in all populations.

Mutations in the SMPD1 gene cause Niemann-Pick disease, types A and B. This gene carries instructions for cells to produce an enzyme called acid sphingomyelinase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as sphingomyelin. Mutations in this gene lead to a deficiency of acid sphingomyelinase and the accumulation of sphingomyelin, cholesterol, and other kinds of lipids within the cells and tissues of affected individuals.

Types C1 and C2

Niemann-Pick disease, type C is further subdivided into types C1 and C2, each caused by a different gene mutation. Both types C1 and C2 Niemann-Pick disease are most commonly characterized by onset in childhood, although infant and adult onsets are possible. Other signs include severe liver disease, breathing difficulties, developmental delay, seizures, increased muscle tone (dystonia), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. The incidence of Niemann-Pick disease, type C is estimated to be 1 in 150,000 people. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia.


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From Gale Encyclopedia of Medicine, 4/6/01 by Altha Roberts Edgren


Lipidoses are heredity disorders, passed from parents to their children, characterized by defects of the digestive system that impair the way the body uses fat from the diet. When the body is unable to properly digest fats, lipids accumulate in body tissues in abnormal amounts.


The digestion, storage, and use of fats from foods is a complex process that involves hundreds of chemical reactions in the body. In most people, the body is already programmed by its genetic code to produce all of the enzymes and chemicals necessary to carry out these functions. These genetic instructions are passed from parents to their offspring during reproduction.

People with lipidoses are born without the genetic codes needed to tell their bodies how to complete a particular part of the fat digestion process. In most of these disorders, the body does not produce a certain enzyme or chemical. Over 30 different disorders of fat metabolism are related to genetic defects. Although the defects are passed from parents to children, the parents often do not have the disorders themselves.

The symptoms, available treatments, and long-term consequences of these conditions vary greatly. Some of the conditions become apparent shortly after the infant is born; in others, symptoms may not develop until adulthood. For most of the lipidoses, diagnosis is suspected based on the symptoms and family history. Blood tests, urine tests, and tissue tests can be used to confirm the diagnosis. Genetic testing can be used, in some cases, to identify the defective gene. Some of these disorders can be controlled with changes in the diet, medications, or enzyme supplements. For many, no treatment is available. Some may cause death in childhood or contribute to a shortened life expectancy. Some of the most common or most serious lipidoses are discussed below.

fabry's disease

Causes & symptoms

Approximately 1 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.


The diagnosis can be confirmed by a blood test to measure for alpha-galactosidase A. Women who are carries of the defective gene can also be identified by a blood test.


Treatment focuses on prevention of symptoms and long-term complications. Daily doses of diphenylhydantoin (Dilantin) or carbamazapine (Tegretol) can prevent or reduce the severity of pain in the hands and feet associated with the condition. A low sodium, low protein diet may be beneficial to those patients who have some kidney complications. If kidney problems progress, kidney dialysis or kidney transplantation may be required. Enzyme replacement therapy is currently being explored.


Although patients with Fabry's disease usually survive to adulthood, they are at increased risk for stroke, heart attacks, and kidney damage.

gaucher disease

Causes & symptoms

Gaucher (pronounced go-shay) disease is the most common of the lipid storage disorders. It is found in populations 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 1 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.


Gaucher disease may be suspected based on symptoms and is confirmed with a blood test for levels of the enzyme. Samples of tissue from an affected area may also be used to confirm a diagnosis of the disease.


The symptoms of Gaucher disease can be stopped and even reversed by treatment with injections of enzyme replacements. Two enzyme drugs currently available are alglucerase (Ceredase) and imiglucerase (Cerezyme). Other treatments address specific symptoms such as anemia, broken bones, or pain.


The pain and deformities associated with symptoms can make coping with this illness very challenging for individuals and families. With treatment and control of symptoms, people with Type 1 Gaucher disease may lead fairly long and normal lives. Most infants with Type 2 die before the age of 2. Children with Type 3 Gaucher disease may survive to adolescence and early adulthood.

krabbe's disease

Causes & symptoms

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.


No treatment is available.


Children born with Krabbe's disease die in infancy.

niemann-pick disease

Causes & symptoms

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.


Diagnosis is confirmed by analyzing a sample of tissue. Prenatal diagnosis of Types A and B of NPD can be done with amniocentesis or chorionic villus sampling.


Treatment consists of supportive care to deal with symptoms and the development of complications. Bone marrow transplantation is being investigated as a possible treatment. Low-cholesterol diets may be helpful for patients with Types C and D.


Patients with Type A NPD usually die within the first year and a half of life. Type B patients generally live to adulthood but suffer from significant liver and lung problems. With Types C and D NPD, there is significant nervous system damage leading to severe muscle spasms, seizures, and eventually, to coma and death. Some patients with Types C and D die in childhood, while less severely affected patients may survive to adulthood.

refsum's disease

Causes & symptoms

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.


A diet free of phytanic acid (found in dairy products, tuna, cod, haddock, lamb, stewed beef, white bread, white rice, boiled potatoes, and egg yolk) can reduce some of the symptoms. Plasmapheresis, a process where whole blood is removed from the body, processed through a filtering system, and then return to the body, may be used to filter phytanic acid from the blood.

tay-sachs disease

Causes & symptoms

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.


Carriers of the Tay-Sachs related gene can be identified with a blood test. Amniocentesis or chorionic villi sampling can be used to determine if the fetus has Tay-Sachs disease.


There is no treatment for Tay-Sachs disease. Parents who are identified as carriers may want to seek genetic counseling. If a fetus is identified as having TSD, parents may consider termination of the pregnancy.


Children born with Tay-Sachs disease become increasingly debilitated; most die by about age four.

wolman's disease

Causes & symptoms

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.


No treatment is currently available.


Death generally occurs before six months of age.


Couples who have family histories of genetic defects can undergo genetic testing and counseling to see if they are at risk for having a child with one of the lipidoses disorders. During pregnancy, cell samples can be collected from the fetus using amniocentesis or chorionic villi sampling. The results of these test can indicate if the developing fetus has a lipidosis disorder. Termination of the pregnancy may be considered in some cases.

Key Terms

A procedure where a needle is inserted through the abdomen into the uterus of a pregnant woman to remove a small amount of the fluid that surrounds the developing fetus. This test can be preformed at about week 16 of the pregnancy. Cells from the fetus can be tested for genetic defects.
Chorionic villi sampling
A procedure to remove a small tissue sample of the placenta, the sac that surrounds the developing fetus. This test can be performed as early as week 10 of the pregnancy. The tissue can be tested for genetic defects.
Organic compounds not soluble in water, but soluble in fat solvents such as alcohol. Lipids are stored in the body as energy reserves and are also important components of cell membranes.
Refers to an inherited characteristic or trait that is expressed only when two copies of the gene responsible for it are present.
Refers to a gene carried on the X chromosome, one of the two sex chromosomes.

Further Reading

For Your Information


  • "Lipid Storage Diseases." In Internal Medicine, edited by Jay H. Stein. 5th ed. St. Louis: Mosby, 1998.
  • McGovern, Margaret M., and Robert J. Desnick. "Lysosomal Storage Diseases." In Cecil Textbook of Medicine, edited by J. Claude Bennett and Fred Plum. 20th ed. Philadelphia: W.B. Saunders, 1996.
  • Valle, David L., ed. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw-Hill, 1994.


  • International Center for Fabry Disease. Department of Human Genetics, Mount Sinai School of Medicine, Box 1497, Fifth Avenue and 100th Street, New York, NY 10029. (212) 241-6944.
  • National Institutes of Health. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), 9000 Rockville Pike, Bethesda, MD 20892. (301) 496-3583.
  • National Institutes of Health. National Institute of Neurological Disorders and Stroke, 9000 Rockville Pike, Bethesda, MD 20892. (301) 496-5751. (800) 352-9424.
  • National Niemann-Pick Foundation. 3734 E. Olive Avenue, Gilbert, AZ 85234. (602) 497-6638.
  • National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06812-8923. (203) 746-6518. (800) 999-6673.
  • National Tay-Sachs and Allied Diseases Association, Inc. 2001 Beacon Street, Brookline, MA 02146. (617) 277-4463. (800) 906-8723.


  • Gaucher Disease Treatment Program at Massachusetts General Hospital.
  • Rare Genetic Diseases In Children: An Internet Resource Gateway.

Gale Encyclopedia of Medicine. Gale Research, 1999.

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