The Pacl Times: Aiden Lopez Life with Sanfilipo

SANFILIPPO SYNDROME

Sanfilippo syndrome is a genetic error of metabolism. It is a mucopolysaccharidoses, an MPS disorder, MPSlll. Mucopolysaccharides are long chains of sugar molecules, which are used in building connective tissues. When the body is finished using these molecules, it breaks them down, with enzymes, and disposes of them. Children with Sanfilippo syndrome are missing or are deficient in the enzyme to break down the molecules. Instead, the body stores these molecules in the cells.This storage causes progressive damage.

Sanfilippo Type A is the most common. It is considered the most severe type with earlier death than the others. These children are deficient in the enzyme Heparan N-sulfatase.

The Pacl Times

Tuesday, January 18, 2011

Aiden Lopez Life with Sanfilipo

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