A lysosomal storage disease caused by a missing enzyme or low enzyme production . Storage effects every cell and function of the body in time . Not approved treatment as of 2019, terminal usually in 2 decade of life for most. Attenuated forms and Types C and D generally live longer .
MPS III, mucopolysaccacharidosis Type 3 , Sanfilippo Syndrome,
Types:
Lysosomal storage disease, metabolic
SYSTEMS AFECTED
Circulatory system
Digestive system
Immune system
Lymphatic system
Muscular system
Nervous system
Respiratory system
Skeletal system
Symptoms
Reoccurring repiratory illness, Hyperactivity, cognitive delay and or decline , large head, insomnia , corse facial features and hair, hydrocephalus , seizures, vision issues , toileting, loss of motor skills, contractures, movement disorders
Treatments
Trials only with Gene therapy and Enzyme Replacemebt therapy for Types A and B
Substrate reduction therapies help for some with genistein isoflavones and Miglustat / Zavesca ( used in Gaucher ) works with secondary storage in Sanfilippo .
Trehalose sugar also has an autophagy effect if tolerated orally and is being trialed via IV late 2019-2020. By Team Sanfilippo Foundation in partnership with Seelos Therapuetics .