Sanfilippo syndrome type D, also known as Mucopolysaccharidosis type III D (MPS III D), is a rare, inherited metabolic disorder caused by a deficiency of the enzyme N-acetylglucosamine-6-sulfatase. This enzyme is responsible for breaking down certain complex sugars called glycosaminoglycans (GAGs). Without this enzyme, GAGs accumulate in the body, leading to progressive damage to the brain and other organs. Symptoms of Sanfilippo syndrome type D typically begin in early childhood and may include developmental delays, speech impairment, aggressive behavior, sleep disturbances, and seizures.

The symptoms of Sanfilippo syndrome type D (also known as MPS III-D) vary from person to person, but may include:

-Developmental delay

-Speech impairment

-Behavioral problems

-Seizures

-Sleep disturbances

-Cognitive decline

-Movement problems

-Hearing loss

-Vision problems

-Feeding difficulties

-Growth delays

-Organ enlargement

-Frequent infections

-Joint stiffness

-Muscle weakness

Sanfilippo syndrome type D is caused by a mutation in the SGSH gene, which is responsible for producing an enzyme called heparan sulfate sulfatase. This enzyme is necessary for breaking down a complex sugar molecule called heparan sulfate. Without this enzyme, heparan sulfate builds up in the body, leading to the symptoms of Sanfilippo syndrome type D.

Currently, there is no cure for Sanfilippo syndrome type D. Treatment focuses on managing symptoms and providing supportive care. This may include physical, occupational, and speech therapy, as well as nutritional support. Medications may be prescribed to help manage seizures, sleep disturbances, and behavioral issues. Additionally, clinical trials are underway to explore potential treatments for Sanfilippo syndrome type D.

The primary risk factor for Sanfilippo syndrome type D is having a parent who carries a mutated gene associated with the disorder. This is an autosomal recessive genetic disorder, meaning that both parents must carry the mutated gene in order for a child to be born with the disorder. Other risk factors include having a family history of the disorder, being of Ashkenazi Jewish descent, and being of African or Mediterranean descent.

At this time, there is no cure or medications available for Sanfilippo syndrome type D. However, research is ongoing to find treatments and potential cures.