Niemann-Pick Disease Type B | Symptoms & Causes
What are the symptoms of Niemann-Pick disease type B?
Signs and symptoms of Niemann-Pick disease type B generally first present in school-aged children and become more pronounced as the child ages.
Symptoms may experience:
- Enlarged liver and spleen (hepatosplenomegaly)
- Short stature
- Frequent respiratory infections
- Lung disease/infection
- Low blood platelets (thrombocytopenia)
- Delayed bone age (slow mineralization of bone)
- Visual changes or difficulties (cherry-red spot)
What causes Niemann-Pick disease type B in children?
Niemann-Pick disease type B is caused by a mutation in a gene known as SMPD1, which provides instructions for the production of an enzyme called acid sphingomyelinase. This enzyme is located in a cell’s lysosomes and is responsible for the conversion and recycling of a specific fat molecule. Genetic mutations in the SMPD1 gene result in a deficiency of acid sphingomyelinase, leading to an accumulation of fat molecules in cells which eventually causes 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 SMPD1 gene from each of their parents.
Niemann-Pick Disease Type B | Diagnosis & Treatments
How is Niemann-Pick disease type B treated?
There are currently no approved therapies to reverse the effects of Niemann-Pick disease. Current approaches to Niemann-Pick disease type B involve supportive therapies and targeted management for specific symptoms.
How we care for Niemann-Pick disease type B
At the Boston Children’s Lysosomal Storage Disorders (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 B.
