What Is Sanfilippo Syndrome or also known as LSD?
SANFILIPPO SYNDROME – Here are some details about Sanfilippo Syndrome, a rare genetic metabolism disorder.
Lysosomal Storage Disease (LSD) also known as Sanfilippo Syndrome is a “rare genetic metabolism disorder”. It is accordingly primarily affecting the brain and spinal cord or the central nervous system. Over time, other body systems will also be affected because of this.
Another name for this is Mucopolysaccharidoses type III or MPS III.
This condition can result in neurodegeneration or the deterioration of neurological function. There is no cure yet for this disorder.
At birth, babies with this condition may not show any symptoms. But in early childhood, signs and symptoms may start to display and they are the following:
- speech and other developmental delays
- getting many ear infections or sinus infections
- large head size
- respiratory infections
- ongoing diarrhea
- headaches
- sleep problems
- behavior issues that can look like those caused by autism
- compulsive behaviors and hyperactivity
This condition gets worse and the affected person may suffer from seizures, severe cognitive problems, and loss of motor skills such as walking, speaking, and others, in a progressive manner. Physically, individuals with LSD have mildly “coarse” facial features with a prominent forehead, a large head, and thick hair and eyebrows.
While there’s no treatment for this condition, the treatments focus on easing the specific symptoms and giving the child the best quality of life as much as possible and as long as possible. Currently, the most promising, so far, is gene therapy.
This is a rare condition that is inherited and classified as a lysosomal storage disorder (LSD).
The four subtypes of the syndrome:
- MPS IIIA
- IIIB
- IIIC
- IIID
According to Sanfilippo Children’s Foundation’s post, “most patients never reach adulthood” and there’s 1 in every 70,000 children born with this disorder.
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