My disease

MPS MPS III-B - Sanfilippo Syndrome

The disease, known as syndrome of Sanfilippo, is characterized by a dysfunction of hereditary metabolism of mucopolysaccharides, disabled enzymes responsible for processing the heparan sulfate ( HS).

People look normal at birth with a reduction in the growth happening with approximately 1 or 2 years of age, occasionally not noticed until the beginning of school life.

Changes in behavior, mental deterioration and loss of motor skills are the main features. Too many hair (hirsutism), increased head (macrocephaly), and limiting the movements of the joints can occur.

Four types A, B, C and D, each with deficiency of an specific enzyme, are known. The physical aspect is similar to the four types and mainly consists of facial swelling (facial coarsening) with a gross appearance, slightly nasal bridge and abundant hair.

The initial development in general is normal. Between 2 to 6 years appear mainly disturbances of behavior, with a progressive loss of mental and motor skills, with spastic diplegia. Some times it is necessary to maintain the patient in bed. The death often occurs between 10 and 20 years of age.

MPS III-B is caused by the deficiency of N-acetyl-alpha-D-glucosaminidase (NAG) (EC 3.2.1.50).

Degree of impact: 1:24.000 to 1:280.000 newborns alive.

Enzymes disabled: Heparan N-sulfatase, alpha-N-acetilglicosaminidade, Acetyl CoA: alpha-acetyl glicosamin?deo, N-acetilglicosamina 6-sulfatase.