Sanfilippo Syndrome

Introduction
The disease I have chosen to present today is called Mucopolysaccharidosis type III or more simply MPS III i.e. Sanfilippo Syndrome. It is a progressive disorder which affects the central nervous system, the brain and spinal cord. There are seven different clinical types of this disease and various subtypes have been identified. People who are diagnosed with this disorder don’t generally display features of the condition at birth. Symptoms begin to manifest during early childhood and patients often initially have delayed speech and behavioural problems. They may become restless, destructive, anxious or aggressive and sleep disturbances are also common. The condition causes a progressive intellectual disability and loss of previously …show more content…
The physical impairments are coarse but less pronounced than other types of MPS. Patients who are diagnosed with MPS type III typically have “mildly” coarse facial features, a large head, a slightly enlarged liver, and a soft out-pouching around the belly button (Umbilical hernia) or lower abdomen. Some have short stature, joint stiffness, or multiple dysotosis multiplex, which are multiple skeletal anomalies seen on an x-ray. They often develop chronic diarrhoea and recurrent upper respiratory and ear infections. Patients may also experience hearing loss and vision problems. Initially patients are symptom free and then they show a slowing of development and/or behavioural problems followed by intellectual decline resulting in severe dementia and progressive motor disease. The progressing into behavioural disturbance includes temper tantrums, hyperactivity, destructiveness, and aggressive behaviour, eating disorders and sleep disturbance. They have normal muscle strength and mobility so disturbances are harder to manage. During the final phase of the illness children become increasingly immobile and unresponsive and usually require a wheelchair. They also may develop swallowing difficulties and seizures. Out of all the MPS diseases MPS III presents the mildest physical anomalies. There are 3 types; IIIA, IIIB, IIIC and IIID (distinguished by their genetic cause). The different types have similar signs and symptoms …show more content…
In the autosomal recessive inheritance, in each pregnancy of a carrier couple, there is a:
• 1 in 4 chance of having an affected child;
• 1 in 2 chance of a child receiving only one copy of the defective gene and therefore being a carrier.
• 1 in 4 chance that a child will be neither affected nor a carrier. What the mutation is/ where the coding error is:
The mutations in the genes GNS, HGSNAT, NAGLU, and SGSH cause MPS III. These genes deliver the commands to make the enzymes involved in the breakdown of glycosaminoglycan (GAGs).GAGs are used by the cells to build joining tissues in the body, such as skin, muscle, cartilage and bone. They also aid with further cellular tasks, such as growth control, organ development and commincation between cells. They were originally called mucopolysaccharidosis (this is where disease gets its name from). MPS IIIA caused mutations in SGSH gene. MPS IIIB caused NAGLU mutations. MPS IIIC caused by HGSNAT. MPS IIID caused by mutations in GNS gene. Mutations in these genes cause either a reduction in the enzymes function or eliminate the enzymes

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