BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuNiemann-Pick diseaseNPD; Sphingomyelinase deficiency; Lipid storage disorder - Niemann-Pick disease; Lysosomal storage disease - Niemann-PickNiemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain.There are three common forms of the disease:Type A Type B Type C Each type involves different organs. It may or may not involve the nervous system and breathing. Each one can cause different symptoms and may occur at different times throughout life. Causes NPD types A and B occur when cells in the body do not have an enzyme called acid sphingomyelinase (ASM). This substance helps break down (metabolize) a fatty substance called sphingomyelin, which is found in every cell in the body.EnzymeEnzymes are complex proteins that cause a specific chemical change in all parts of the body. For example, they can help break down the foods we eat ...Read Article Now Book Mark Article If ASM is missing or does not work properly, sphingomyelin builds up inside cells. This kills your cells and makes it hard for organs to work properly.Type A occurs in all races and ethnicities. It is more common in the Ashkenazi (Eastern European) Jewish population.Type C occurs when the body cannot properly break down cholesterol and other fats (lipids). This leads to too much cholesterol in the liver and spleen and too much of other lipids in the brain. Type C is most common among Puerto Ricans of Spanish descent.Type C1 is a variant of type C. It involves a defect that interferes with how cholesterol moves between brain cells. This type has only been seen in French Canadian people in Yarmouth County, Nova Scotia. Symptoms Symptoms vary. Other health conditions may cause similar symptoms. The early stages of the disease may only cause a few symptoms. A person may never have all symptoms.Type A usually begins in the first few months of life. Symptoms may include:Abdominal (belly area) swelling within 3 to 6 months Cherry red spot at the back of the eye (on the retina) On the retinaThe retina is the light-sensitive layer of tissue at the back of the eyeball. Images that come through the eye's lens are focused on the retina. Th...ImageRead Article Now Book Mark Article Feeding difficulties Loss of early motor skills (gets worse over time)Type B symptoms are usually milder. They occur in late childhood or the teenage years. Abdominal swelling may occur in young children. There is almost no brain and nervous system involvement, such as loss of motor skills. Some children may have repeated respiratory infections.Types C and C1 usually affects school-age children. However, it may occur any time between early infancy to adulthood. Symptoms may include:Difficulty moving limbs that may lead to unsteady gait, clumsiness, walking problems Enlarged spleen Enlarged liver Jaundice at (or shortly after) birth Learning difficulties and intellectual decline Seizures Slurred, irregular speech Sudden loss of muscle tone that may lead to falls Tremors Trouble moving the eyes up and down Exams and Tests A blood or bone marrow test can be done to diagnose types A and B. The test can tell who has the disease, but does not show if you are a carrier. DNA tests can be done to diagnose carriers of types A and B.A skin biopsy is usually done to diagnose types C and D. The health care provider watches how the skin cells grow, move, and store cholesterol. DNA tests may also be done to look for the 2 genes that cause this type of the disease.Other tests might include:Bone marrow aspiration Bone marrow aspirationBone marrow is the soft tissue inside bones that helps form blood cells. It is found in the hollow part of most bones. Bone marrow aspiration is th...ImageRead Article Now Book Mark Article Liver biopsy (usually not needed) Liver biopsyA liver biopsy is a test that takes a sample of tissue from the liver for examination.ImageRead Article Now Book Mark Article Slit-lamp eye exam Slit-lamp eye examThe slit-lamp examination looks at structures that are at the front of the eye.ImageRead Article Now Book Mark Article Tests to check level of ASM Treatment At this time, there is no effective treatment for type A.Bone marrow transplants may be tried for type B. Researchers continue to study possible treatments, including enzyme replacement and gene therapy.A new medicine called miglustat is available for the nervous system symptoms of type C.High cholesterol may be managed with a healthy, low-cholesterol diet or medicines. However, research does not show that these methods stop the disease from getting worse or change how cells break down cholesterol. Medicines are available to control or relieve many symptoms, such as sudden loss of muscle tone and seizures. Support Groups These organizations can provide support and more information on Niemann-Pick disease:National Institute of Neurological Disorders and Stroke -- www.ninds.nih.gov/Disorders/All-Disorders/Niemann-Pick-Disease-Information-Page National Niemann-Pick Disease Foundation -- nnpdf.org National Organization for Rare Disorders -- rarediseases.org/rare-diseases/niemann-pick-disease-type-c Outlook (Prognosis) NPD type A is a severe disease. It usually leads to death by age 2 or 3.Those with type B may live into late childhood or adulthood.A child who shows signs of type C before age 1 may not live to school age. Those who show symptoms after entering school may live into their mid-to-late teens. Some may live into their 20s. When to Contact a Medical Professional Make an appointment with your provider if you have a family history of Niemann-Pick disease and you plan to have children. Genetic counseling and screening is recommended.Call your provider if your child has symptoms of this disease, including:Developmental problems Feeding problems Poor weight gain Prevention All types of Niemann-Pick are autosomal recessive. This means that both parents are carriers. Each parent has 1 copy of the abnormal gene without having any signs of the disease themselves.Autosomal recessiveAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...ImageRead Article Now Book Mark Article When both parents are carriers, there is a 25% chance that their child will have the disease and a 50% chance that their child will be a carrier.Carrier detection testing is only possible if the genetic defect is identified. The defects involved in types A and B have been well-studied. DNA tests for these forms of Niemann-Pick are available.Genetic defects have been identified in the DNA of many people with type C. It may be possible to diagnose people who carry the abnormal gene.A few centers offer tests to diagnose a baby still in the womb.Open ReferencesReferencesKliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM.. Defects in metabolism of lipids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 104.Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. Emery's Elements of Medical Genetics and Genomics. 16th ed. Philadelphia, PA: Elsevier; 2022:chap 18.AllVideoImagesTogNiemann-Pick foamy cells - illustration Neimann-Pick is a disease in which excess material is stored inside cells (metabolic storage disease). These cells are referred to as foam cells because of their foamy or soap-suds appearance.Niemann-Pick foamy cellsillustrationAutosomal recessive - illustration Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop. For a child born to a couple who both carry the gene (but do not have signs of disease), the expected outcome for each pregnancy is: a 50% chance that the child is born with one normal and one abnormal gene (carrier, without disease), a 25% chance that the child is born with two normal genes (normal), and a 25% chance that the child is born with two abnormal genes (at risk for the disease). Note: These outcomes do not mean that the children will definitely be carriers or be severely affected.Autosomal recessiveillustrationNiemann-Pick foamy cells - illustration Neimann-Pick is a disease in which excess material is stored inside cells (metabolic storage disease). These cells are referred to as foam cells because of their foamy or soap-suds appearance.Niemann-Pick foamy cellsillustrationAutosomal recessive - illustration Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop. For a child born to a couple who both carry the gene (but do not have signs of disease), the expected outcome for each pregnancy is: a 50% chance that the child is born with one normal and one abnormal gene (carrier, without disease), a 25% chance that the child is born with two normal genes (normal), and a 25% chance that the child is born with two abnormal genes (at risk for the disease). Note: These outcomes do not mean that the children will definitely be carriers or be severely affected.Autosomal recessiveillustrationRelated Information Intellectual disability(Condition) Review Date: 10/27/2020 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.