Niemann-Pick disease (type c)

What is Niemann-Pick disease type C?

Niemann-Pick disease is a rare genetic condition that affects many of the body’s organs and systems, including the central nervous system. It is one of about 50 diseases classified as lysosomal storage disorders (LSD), where a genetic variation disrupts the normal activity of lysosomes in human cells. Niemann-Pick disease type C, is a subtype of Niemann-Pick disease, classified according to the specific genetic cause of the disease and the symptoms of the disease.

What are lysosomes and what do they do?

Lysosomes contain specific proteins (enzymes) responsible for breaking down and recycling molecules such as fats and sugars. Individuals with a lysosomal storage disorder lack one of these necessary enzymes or do not have one of these enzymes in sufficient quantities to break down molecules for proper cell function.

What causes Niemann-Pick disease type C in children?

Niemann-Pick disease type C is caused by a mutation in either the NPC1 or NPC2 genes, which provide instructions for the production of special proteins in lysosomes that are responsible for the movement of cholesterol and other fats. Genetic mutations in the NPC1 or NPC2 gene results in an abnormal accumulation of fat molecules in cells, eventually causing cells to malfunction. This genetic condition is inherited in an autosomal recessive pattern, meaning that an affected child has received one defective copy of the affected gene from each of their parents.

What are the symptoms of Niemann-Pick disease type C?

Signs and symptoms of Niemann-Pick disease type C generally first appear in childhood, though they can present at any time, including adolescence or adulthood. Because of the progressive nature of Niemann-Pick disease, signs and symptoms become more pronounced over time.

Symptoms may include:

  • enlarged liver and spleen (hepatosplenomegaly)
  • difficulty coordinating movement (ataxia)
  • abnormal eye movements (vertical supranuclear gaze palsy)
  • poor muscle tone (hypotonia)
  • severe liver disease
  • frequent respiratory infections
  • difficulty with speech
  • difficulty with swallowing and feeding
  • loss of cognitive skills
  • seizures

Treatment for Niemann-Pick disease type C

There are currently no approved therapies to reverse the effects of Niemann-Pick disease type C. Current approaches to Niemann-Pick disease type C involve supportive therapies and targeted management for specific symptoms.

How we care for Niemann-Pick disease type C

At the Boston Children’s Lysosomal Storage Disorder (BoLD) Program, our team of providers is committed to the care of complex patients. As part of Boston Children’s Hospital, we are prepared to meet the challenge of providing multifaceted care by partnering with you and your child to deliver direct care in our BoLD clinic. We work with the broad array of world-class specialists at Boston Children’s to optimize the care we provide your child with Niemann-Pick disease type C.