What Is Fucosidosis?

Fucosidosis is a rare, genetic disease that impacts many areas of the body, but the brain especially. It is caused by a mutation in the FUCA1 gene which leads to a deficiency of the enzyme alpha-L-fucosidase. This enzyme breaks down fucose-containing compounds, and without it, the compounds accumulate throughout the body.

What Are the Symptoms?

Symptoms can vary among individuals, and the age in which they appear can also vary. This originally caused researchers to differentiate the disease into two types, but researchers now believe the disease simply has a wide spectrum of expression. Symptoms associated with fucosidosis include:

  • Mental retardation
  • Loss of muscle tone
  • Movement disorders
  • Coarse facial features
  • Abnormal bone development
  • Delayed development of motor skills
  • Enlarged blood vessels
  • Seizures
  • Muscle stiffness/rigidity
  • Respiratory infections
  • Enlarged liver, spleen, and/or heart

How Do You Get Fucosidosis?

Like most leukodystrophies, this disorder is inherited through an autosomal recessive pattern. This means that both parents must be carriers of the FUCA1 gene mutation and pass them onto their child. The disease can appear in any individual, of any background, but it is most prevalent amongst populations from the southwestern United States and southern Italy.

How Is It Diagnosed?

Since this disorder is an inherited disease, individuals are usually diagnosed through genetic testing to check for the FUCA1 gene mutation.

Is There a Treatment for Fucosidosis?

Currently, there is no known treatment, and life expectancy can range anywhere from late childhood to mid-adulthood. Medications can be administered, though, to alleviate symptoms of the disease.

Helpful Resources

The International Advocate for Glycoprotein Storage Diseases

Fucosidosis on NORD

Leukodystrophy Care Network