Sanfilippo mucopolysaccharidoses digital illustration

Sanfilippo mucopolysaccharidoses Save

ICD-10 code: E76.22

Chapter: Endocrine, nutritional and metabolic diseases

Understanding Sanfilippo Mucopolysaccharidoses: A Rare Genetic Disorder

Sanfilippo Mucopolysaccharidoses, also known as MPS III, is a rare genetic disorder characterized by the accumulation of complex sugars called mucopolysaccharides in the body. This condition is caused by a deficiency in one of the four enzymes responsible for breaking down these sugars, leading to their accumulation and causing damage to various organs and tissues in the body.

Sanfilippo MPS affects approximately 1 in every 70,000 births, making it a rare disorder. The condition is typically diagnosed in early childhood, with symptoms including delayed development, behavioral problems, and progressive neurological decline.

Symptoms of Sanfilippo MPS

The symptoms of Sanfilippo MPS can vary depending on the specific type of the condition. There are four different types of Sanfilippo MPS, each caused by a deficiency in a different enzyme. The symptoms of each type are as follows:

  1. Type A: This type is characterized by delayed development, behavioral problems, and progressive neurological decline. Children with Type A may also experience seizures and sleep disturbances.
  2. Type B: Children with Type B may experience hearing loss, delayed development, and behavioral problems. They may also develop joint stiffness and mobility issues.
  3. Type C: This type is characterized by delayed development, seizures, and liver and spleen enlargement. Children with Type C may also experience behavioral problems and difficulty with movement.
  4. Type D: This type is the rarest form of Sanfilippo MPS and has only been identified in a few families. Symptoms may include developmental delay, hearing loss, and behavioral problems.
Treatment of Sanfilippo MPS

Currently, there is no cure for Sanfilippo MPS. Treatment is focused on managing the symptoms of the condition and improving quality of life for affected individuals. This may include physical therapy, speech therapy, and medications to manage seizures and other symptoms.

Research is ongoing to develop new treatments for Sanfilippo MPS, including enzyme replacement therapy and gene therapy. These treatments have shown promising results in early studies and may provide hope for the future of those affected by this rare genetic disorder.


Sanfilippo MPS is a rare genetic disorder that can have a significant impact on the lives of affected individuals and their families. Understanding the symptoms and potential treatments for this condition is crucial for providing the best possible care and support for those affected by Sanfilippo MPS. Ongoing research into new treatments for this condition provides hope for a brighter future for those living with Sanfilippo MPS.

Diagnosis Codes for Sanfilippo mucopolysaccharidoses | E76.22