Get Even More Visitors To Your Blog, Upgrade To A Business Listing >>

Sanfilippo Syndrome – Know The Disease Before It Hits

Genetic metabolic disorders have for long been a category of the most dreaded diseases known to mankind today, in spite of the strenuous research which has been invested in devising their cure. Sanfilippo syndrome is the most known but rarest amongst these and has a staggering presence amongst the children especially in the Western world. The impending effect the condition has on the ailing body is what makes it amongst the most unthinkable of horrors. A rather rare and genetically acquired condition which is infamously referred to as the Sanfilippo disease or Sanfilippo syndrome, has been seen to be present in 1 out of seventy thousand births.

sanfilippo syndrome

It is passed on down in the family. It is also called as childhood disease, as it impacts upon the child’s brain and mobility and the ability to take care of self. Although the odds might not seem to be too bad, the fact that its symptoms surface amongst children and occurs in the early years (2-3 years of age) is frightening. Those who suffer from the disease, unfortunately, do not live beyond late teens.


sanfilippo syndrome sanfilippo disease

Our body breaks down food that we eat, the presence of multiple enzymes aid in the process. Inability to break it effectively can lead to different issues. The enzyme that breaks down the long chain of sugar molecules is missing in children that suffer from Sanfilippo syndrome.


Sanfilippo syndrome is also known as MPS II and is classified in 4 main categories based on the enzyme being affected. Based on the severity, the categories are as follows:

  1. Type A (when a person does not have Heparan N-sulfatase)
  2. Type B (when a person is not producing enough alpha-N-acetylglucosaminidase)
  3. Type C (missing acetyl-CoAlpha-glucosaminide acetyltransferase)
  4. Type D (missing N-acetylglucosamine 6-sulfatase)


It leads to nerve damage the gradually worsens and In due course, it leads to suffering in different forms like blindness, degeneration, delayed mental development and even mental disability, seizures, full lips, diarrhea, heavy eyebrows low IQ, behavioral problems, language, and understanding problem. Due to stiff joints, the problem in movements where the joints are involved, like in the case of tennis elbow, may also be eventually experienced. The victim becomes dependent on the wheelchair due to stiff joints and walking problems.

Diagnosis of Sanfilippo Syndrome

As the symptoms of the condition are varied, there are many examinations that can reveal the condition

  • A urine test conducted can help in diagnosing the condition. Heparan (a mucopolysaccharide) is present in large amounts in the victim’s urine.
  • Neurological testing can also be done as it may divulge signs of mental disability and seizures.
  • As it is hereditary, genetic testing can also help in diagnosis
  • Victims also have a swollen spleen and liver
  • Clear corneas are noticeable in the eyes of the enduring, hence a slit lamp eye exam can also help in diagnosing the condition

Cure of Sanfilippo disease

A gene therapy that might be a cure for this deadly Sanfilippo disease is being worked upon by researchers. About half an hour’s procedure requires injecting a harmless virus into the victim’s bloodstream. However, the therapy is still risky and being worked upon. The virus that is injected into the blood stream is harmless. It is the carrier of the gene that helps in the synthesis of the missing enzyme. The human body is required to translate the gene into the required one in order for the problem to be fixed.

Eliza and family gave a tough fight to Sanfilippo Syndrome bravely, 2016

sanfilippo syndrome

The wise ones say every calamity has its heroes;Eliza O’Neils ‘s story is the light post the storm that is Sanfilippo syndrome. It took a mammoth effort of many years of fund raising and 726-days isolation exercise by her family, which made here qualify as being the first ever child in the world to receive a researched gene as a remediation for her condition, the Sanfilippo disease.

Having being diagnosed with type A Sanfilippo syndrome, Elizzie, and her family fought a grave battle which has brought in an enriched hope with the recent developments.

The post Sanfilippo Syndrome – Know The Disease Before It Hits appeared first on OneStopMagic.

This post first appeared on A Magical Route To The Blissful Health, Beauty, Fitness And Life, please read the originial post: here

Share the post

Sanfilippo Syndrome – Know The Disease Before It Hits


Subscribe to A Magical Route To The Blissful Health, Beauty, Fitness And Life

Get updates delivered right to your inbox!

Thank you for your subscription