Conditions Niemann-Pick Disease

Niemann-Pick disease (NPD) is an inherited condition that affects many different parts of the body. It is considered a lysosomal storage disorder because people with NPD have lysosomes (the recycling center of each cell) that cannot break down certain types of fats. This causes undigested fat molecules and other harmful substances to build up in cells throughout the body, resulting in a variety of symptoms.

There are two forms of NPD, Niemann-Pick disease type A (NPD-A) and Niemann-Pick disease type B (NPD-B), which differ in regards to disease severity and age of onset. The symptoms and long term outcome of each form vary widely. For some babies with NPD, detecting the condition early and beginning proper treatment may help prevent or delay some of the severe health outcomes associated with the condition.

Condition Type

Lysosomal Storage Disorders


Niemann-Pick disease type A (NPD-A) and type B (NPD-B) are estimated to affect 1 in 250,000newborn babies. NPD-A, specifically, is most common in individuals of Ashkenazi (Eastern and Central European) Jewish descent and affects in 1 in 40,000 Ashkenazi Jewish babies.

Also known as

  • NPD
  • DAF syndrome
  • Lipoid histiocytosis (classical phosphatide)
  • Neuronal Cholesterol Lipidosis
  • Ophthalmoplegia, Supraoptic Vertical
  • Sphingomyelinase deficiency
  • Sphingomyelin/cholesterol lipidosis
  • Sphingomyelin lipidosis

Follow-Up Testing

Your baby’s doctor may ask you if your baby is showing any of the signs of Niemann-Pick disease (see Early Signs below). If your baby has certain signs, your baby’s doctor may suggest starting immediate treatment.

If your baby’s newborn screening result for Niemann-Pick disease (NPD) was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your child to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. An out-of-range result may occur because the initial blood sample was too small or the test was performed too early. However, as a few babies do have the condition, it is very important that you go to your follow-up appointment for a confirmatory test. Because the harmful effects of untreated NPD can occur soon after birth, follow-up testing must be completed as soon as possible to determine whether or not your baby has the condition.

Follow-up testing will involve checking your baby’s blood for signs of NPD. When a child has a lysosomal storage disorder, an enzyme that helps the body breakdown fats is either missing or not working properly.. Evaluating the activity of this enzyme in your baby’s body can help doctors determine if your baby has the condition. Deficient activity of the enzyme, acid sphingomyelinase (ASM), in the blood may indicate that your baby has NPD. Your baby’s doctor may also want to confirm the diagnosis with clinical genetic testing.

About Niemann-Pick Disease

Early Signs

The age of onset, symptoms and severity of Niemann-Pick disease (NPD) differ depending on the form.

Niemann-Pick disease type A (NPD-A), the more severe form of NPD, usually develops in the first few months of life and progress rapidly. Early signs of this form include:

  • Abdominal swelling (due to enlarged liver and spleen)
  • Poor growth
  • Poor weight gain
  • Feeding difficulties
  • Loss of motor skills
  • Diarrhea
  • Vomiting
  • Frequent lung infections
  • Developmental delay

In Niemann-Pick disease type B (NPD-B), symptoms are usually milder and do not develop until later in childhood or adolescence. Early signs of this form include:

  • Abdominal swelling (due to enlarged liver and spleen)
  • Frequent lung infections
  • Short stature
  • Low weight
  • Developmental delay

If your baby shows any of these signs, be sure to contact your baby’s health care provider immediately.


At this time, there is no effective treatment to prevent the serious signs and symptoms of Niemann-Pick disease type A (NPD-A). However, a doctor may recommend the following to help improve the quality of your baby’s life:

  • Nutrition: Some babies with NPD-A have a difficult time feeding and gaining weight. A nutritionist or dietician can help you monitor your baby’s calorie intake and plan a diet that will provide the nutrients they need. In some cases, a feeding tube may be necessary.
  • Medications: A physician may recommend sedatives for babies with severe trouble sleeping and irritability.
  • Therapies: Your baby’s health care provider may recommend physical and occupational therapy to encourage movement and prevent contracture (the tightening of your baby’s muscles and tendons).

If your baby has Niemann-Pick disease type B (NPD-B), a physician may recommend the following treatments:

  • Blood Transfusions: Many babies with NPD-B have a decreased numbers of blood cells involved in clotting (platelets). A blood transfusion may be recommended during which blood from a healthy individual is given to someone with NPD-B
  • Medications: As your child gets older, they may be prescribed statins to lower the levels of LDL cholesterol.
  • Nutrition: A nutritionist or dietician can help you monitor your baby’s calorie intake and plan a diet that will provide the nutrients they needs for growth and development
  • Bone Marrow Transplant: Some individuals with type B may benefit from a bone marrow transplant. A bone marrow transplant can improve the functioning of non-working enzymes, improve the level of red blood cells, and reduce the abnormal size of the liver.
Expected Outcomes

Unfortunately, babies with Niemann-Pick disease type A (NPD-A) have many life-threatening medical problems and usually do not survive past age three.

Niemann-Pick disease type B (NPD-B) is generally associated with milder symptoms and a longer lifespan. In fact, individuals with this form of the condition usually live into adulthood, though they may have many health complications.

Early detection and proper treatment can help improve the quality of life in babies with NPD-A and the long term outcome of babies with NPD-B. This is why newborn screening for NPD is so important.


Structures called lysosomes are the recycling centers within our cells. Lysosomes contain enzymes that help the cell breakdown and reuse certain materials from the foods we eat. Some enzymes help the lysosome breakdown certain fats, specifically. One of these enzymes is called acid sphingomyelinase (ASM).

If your baby has Niemann-Pick disease (NPD), their body is missing or making non-working copies of ASM enzymes. When these enzymes are not working correctly, your baby’s body cannot break down certain fats into smaller components. This causes undigested fats and other harmful substances to build up in lysosomes and white blood cells throughout the body, resulting in the many signs and symptoms of NPD.

NPD is an autosomal recessive genetic condition. This means that a child must inherit two copies of the non-working gene for NPD one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition.

While having a child with NPD is rare, when both parents are carriers, they can have more than one child with the condition. Learn more about autosomal recessive inheritance.

Support for Niemann-Pick Disease

Support Services

Support groups can help connect families who have a child or other family member affected with Niemann-Pick disease with a supportive community of people who have experience and expertise in living with the condition. These organizations offer resources for families, affected individuals, health care providers, and advocates.

Accessing Care

Work with your baby’s health care provider to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with a dietician, a physical therapist, physicians who specialize in metabolism, hepatology, neurology, and cardiology, and other medical resources in your community. Some children with Niemann-Pick disease (NPD) have developmental delays. If you think that your baby is not meeting their developmental milestones, ask your baby’s doctor about the next steps in accessing a developmental evaluation and care.

Because NPD is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for NPD, and understand what this diagnosis means for other family members and future pregnancies. Speak with your baby’s doctor about getting a referral. The Clinic Services Search Engine offered by the American College of Medical Genetics and Genomics (ACMG) and the Find a Genetic Counselor tool on the National Society of Genetic Counselors (NSGC) website are two good resources for you or your baby's health care provider to use to identify local specialists.

Families' Experiences

At this time we have not located a family story for this particular condition. If your family is affected by Niemann-Pick disease and you would like to share your story, please contact us so other families may benefit from your experience.

References & Sources

Visit GeneReviews for more information on acid sphingomyelinase deficiency

Visit MedlinePlus Genetics for more condition information

Visit the National Niemann-Pick Disease Foundation for more condition information

ACT Sheets

Healthcare professionals can learn more about confirmatory testing by reading the American College of Medical Genetics and Genomics' Algorithm for Diagnosis and ACT Sheet, a guide for follow-up after newborn screening. You can visit this page of the ACMG website here.

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