Niemann-Pick disease types A and B occur when the body lacks enzymes needed to break down sphingomyelin.
Niemann-Pick disease type C occurs when the body is not able to break down cholesterol and other lipids.
Symptoms vary by type but may include intellectual disability and neurologic problems.
The diagnosis is based on the results of prenatal screening tests, newborn screening tests (for types A and B), or biopsy of the liver.
Niemann-Pick disease cannot be cured.
There are different types of inherited disorders Inheritance of Single-Gene Disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more . In Niemann-Pick disease, both parents of the affected child carry a copy of the abnormal gene. Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. (See also Overview of Hereditary Metabolic Disorders Overview of Hereditary Metabolic Disorders Hereditary metabolic disorders are inherited genetic conditions that cause metabolism problems. Heredity is the passing of genes from one generation to the next. Children inherit their parents'... read more .)
Sphingolipidoses occur when people do not have the enzymes needed to break down (metabolize) sphingolipids, which are compounds that protect the cell surface and serve certain functions in the cells. There are many types of sphingolipidoses besides Niemann-Pick disease types A and B:
Types of Niemann-Pick disease
Niemann-Pick disease has several types. In types A and B, the deficiency of a specific enzyme called sphingomyelinase results in the accumulation of sphingomyelin (a product of fat metabolism). In type C, there is a defect in how fats (lipids) are moved around in a cell, resulting in accumulation of cholesterol and other fatty substances.
The most severe forms tend to occur in Ashkenazi Jewish people. The milder forms occur in all ethnic groups.
Children with type A (the most severe form) fail to grow normally and have several neurologic problems. These children usually die by age 2 or 3.
Children with type B develop fatty growths in the skin, areas of dark pigmentation, and an enlarged liver, spleen, and lymph nodes. They may be intellectually disabled Intellectual Disability Intellectual disability is significantly below average intellectual functioning present from birth or early infancy, causing limitations in the ability to conduct normal activities of daily... read more .
Children with type C develop symptoms during childhood, with seizures and neurologic deterioration. Type C is always fatal, and most children die before age 20.
Diagnosis of Niemann-Pick Disease
Prenatal screening tests
Newborn screening tests and/or biopsy of the liver
Blood and sometimes DNA tests
Before birth, Niemann-Pick disease types A and B can be diagnosed in the fetus by using the prenatal screening tests chorionic villus sampling Chorionic Villus Sampling Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more or amniocentesis Amniocentesis Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more .
After birth, the diagnosis of Niemann-Pick disease types A and B may be diagnosed in some states by routine newborn screening tests Newborn Screening Tests Many serious disorders that are not apparent at birth can nonetheless be detected by various screening tests. Early diagnosis and prompt treatment can reduce or prevent many disorders that may... read more . Newborn screening tests cannot be done for type C.
Doctors also measure levels of sphingomyelinase in white blood cells for types A and B. Genetic testing Genetic Screening Before Pregnancy Genetic screening is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder. Hereditary genetic disorders are disorders of chromosomes or... read more , which is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder, is also available for all three types.
Tests of DNA (the building blocks of genes) may be done to identify carriers. Carriers Carrier Screening Genetic screening is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder. Hereditary genetic disorders are disorders of chromosomes or... read more are people who have an abnormal gene for a disorder but who do not have symptoms or visible evidence of the disorder.
Treatment of Niemann-Pick Disease
Possible bone marrow transplantation, stem cell transplantation, and enzyme replacement
None of the types of Niemann-Pick disease can be cured, and children tend to die of infection or progressive dysfunction of the central nervous system (the brain and spinal cord).
Currently, some therapies that may slow or halt the progression of symptoms, such as bone marrow transplantation, stem cell transplantation Stem Cell Transplantation Stem cell transplantation is the removal of stem cells (undifferentiated cells) from a healthy person and their injection into someone who has a serious blood disorder. (See also Overview of... read more , and enzyme replacement, are being studied.
The following are English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
Jewish Genetic Disease Consortium (JGDC): A resource for people of Jewish ancestry who want to undergo carrier screening for certain genetic diseases
National Organization for Rare Disorders (NORD): This resource provides information to parents and families about rare diseases, including a list of rare diseases, support groups, and clinical trial resources.
Genetic and Rare Diseases Information Center (GARD): This resource provides and easy to understand information about rare or genetic diseases.