Sanfilipo

 Thinking of my sweet grandniece Miri who should have turned 15 on September 14th. Gone too soon to Sanfilippo Syndrome

She started out as a completely normal baby and as a toddler she began showing signs of being "different".  By the time she died she was not able to walk or talk.   But she laughed and gave wonderful hugs  

Sanfilippo Syndrome

Sanfilippo syndrome is a group of rare genetic conditions that affect several body systems but mainly your child’s nervous system. It happens when their body can’t break down a certain substance, which builds up in cells and damages them. Symptoms of Sanfilippo syndrome begin in early childhood and worsen with time. The main treatment is symptom management.

 

 

Overview

Sanfilippo syndrome is a group of inherited lysosomal storage disorders that mainly affect a child’s central nervous system. It can cause certain facial features as well.

What is Sanfilippo syndrome?

Sanfilippo syndrome is a group of inherited (genetic) lysosomal storage disorders that mainly affect your child’s central nervous system (brain and spinal cord). It causes a variety of cognitive (mental), behavioral and physical symptoms that get worse over time. These symptoms lead to premature death.

Another name for this condition is mucopolysaccharidosis type III (MPS III).

Sanfilippo syndrome happens when there’s a deficiency in one of four enzymes that affect the breakdown (metabolism) of heparan sulfate. Heparan sulfate is a glycosaminoglycan (also known as a mucopolysaccharide), a complex carbohydrate. Because your child doesn’t have the proper enzyme to break down heparin sulfate, it builds up in their cells, tissues and organs, damaging them.

Sanfilippo syndrome types

There are four subtypes of Sanfilippo syndrome: types A, B, C and D. Each subtype results from a deficiency of a different enzyme:

• Type A: Sulfamidase deficiency.
• Type B: α-N-acetylglucosaminidase deficiency.
• Type C: Heparan acetyl CoA: α-glucosaminide N-acetyltransferase deficiency.
• Type D: N-acetylglucosamine 6-sulfatase deficiency.

How common is Sanfilippo syndrome?

Sanfilippo syndrome is rare. Researchers estimate that it affects 1 person per every 50,000 to 250,000 people. Sanfilippo syndrome type A is the most common subtype globally. Type D is the least common.

 

 

MPS III
(Sanfilippo syndrome)

MPS III is a mucopolysaccharide disease also known as Sanfilippo syndrome. It takes its name from Dr. Sylvester Sanfilippo, one of the U.S. doctors who described the condition in 1963.