What Is Sanfilippo Syndrome?

This post was written with Consensus AI Academic Search Engine – please read our Disclaimer at the end of this article. Sanfilippo Syndrome, also known as Mucopolysaccharidosis type III (MPS III), is a rare, inherited metabolic disorder characterized by the body’s inability to properly break down heparan sulfate, a type of glycosaminoglycan (GAG). This condition is caused by a deficiency in one of the four enzymes responsible for the degradation of heparan sulfate, leading to its accumulation in the lysosomes of cells, particularly in the central nervous system1 2 3.

Types of Sanfilippo Syndrome

Sanfilippo Syndrome is classified into four subtypes based on the specific enzyme that is deficient:

• Type A: Caused by a deficiency in heparan-N-sulfatase (HNS)1.
• Type B: Caused by a deficiency in α-N-acetylglucosaminidase (Naglu)4.
• Type C: Caused by a deficiency in acetyl-CoA:α-glucosaminide acetyltransferase.
• Type D: Caused by a deficiency in N-acetylglucosamine 6-sulfatase.

Pathophysiology

The deficiency in these enzymes leads to the accumulation of heparan sulfate in the lysosomes, which disrupts normal cellular function and results in progressive neurodegeneration. This accumulation primarily affects the brain and central nervous system, leading to severe neurological symptoms1 4.

Symptoms

Sanfilippo Syndrome typically presents in early childhood with a range of symptoms that worsen over time. Common symptoms include:

• Developmental Delay: Initial normal development followed by a plateau and subsequent regression in cognitive and motor skills.
• Behavioral Issues: Hyperactivity, aggression, and sleep disturbances are common2.
• Neurological Decline: Progressive loss of speech, mobility, and cognitive function.
• Physical Symptoms: Coarse facial features, enlarged liver and spleen (hepatosplenomegaly), and joint stiffness.

Diagnosis

Diagnosis of Sanfilippo Syndrome is based on clinical evaluation, biochemical tests to measure enzyme activity, and genetic testing to identify mutations in the genes responsible for the enzyme deficiencies. Elevated levels of heparan sulfate in urine, blood, or cerebrospinal fluid (CSF) are indicative of the disorder1 2.

Conclusion

Sanfilippo Syndrome is a severe, progressive disorder with significant impacts on neurological function due to the accumulation of heparan sulfate. Early diagnosis and understanding of the specific enzyme deficiency are crucial for managing the disease and exploring potential therapeutic interventions.

Disclaimer

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