Özet:

Mukopolisacaridosis type III (MPS III), or sanfilippo syndrome, is due to the lack of one of four enzymes that play a role in the lizosomal decrease of the autosomal resessive hereditary hepan sulfate (HS) enzyme. These children are accidentally diagnosed with idyopathic speech delay, attention deficiency hyperactivity syndrome (DEHS) and/or autism. It is characterized by progressive mental deterioration, behavioral problems, dismorphic faces and slight somatic findings. MPS III diagnosis was found in the story received from the emergency children and children’s gastroenterology departments due to the use of corrosive substances, with sleep disorders and late speech complaints and therefore repeatedly addressed to the child psychiatrist. Children with intelligence depression, crude face and hypertricosis were sent to the pediatric gastroenterology department for MPS pre-diagnosis. Studies of lizosomal enzyme activity in leukocytes have led to MPS 3 diagnosis, showing an increase in total GAG, heparin and HS levels and a decrease in HS sulfamidase activity.

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