What is Galactosialidosis?

Galactosialidosis is a rare, lysosomal storage disorder that impacts multiple regions of the body. It’s caused by a genetic mutation of the CTSA gene, which in turn causes lysosomal storage complications. Lysosomes are responsible for breaking down and digesting fats, sugars, and proteins, but with galactosialidosis, the lysosomes do not perform as they should, causing toxic materials to accumulate within the cells. There are three main types of galactosialidosis: early infantile form, late infantile form, and juvenile/adult form.

Early Infantile Form

The early infantile form of galactosialidosis develops within individuals younger than 3 months of age. They usually live until late infancy and will develop the following symptoms:

  • Extensive swelling caused by fluid accumulation before birth
  • A soft outpouching in the lower abdomen
  • Enlarged liver and spleen
  • Abnormal bone development
  • Coarse facial features
  • Enlarged heart
  • Cherry-red spot in eye
  • Kidney disease that can progress into kidney failure

Late Infantile Form

The late infantile form of galactosialidosis is similar to early infantile form, with a few exceptions. It develops in individuals within the first year of life and is typically less severe than early infantile form. Symptoms can include:

  • Short stature
  • Heart valve problems
  • Abnormal bone development
  • Enlarged liver and spleen
  • Coarse facial features
  • Intellectual disabilities
  • Hearing loss
  • Cherry-red spot in eye

Juvenile/Adult Form

Typically developing around 16 years of age, the juvenile/adult form of galactosialidosis is somewhat different from the early and late infantile forms. An individual with the juvenile/adult form has a normal life expectancy, but can suffer from the following symptoms:

  • Difficulty coordinating movements
  • Muscle twitches
  • Seizures
  • Progressive loss of intellectual faculties
  • Dark red spots on skin
  • Bone abnormalities in the spine
  • Coarse facial features
  • Cherry-red spot in eye
  • Vision loss
  • Hearing loss

How Do You Get Galactosialidosis?

Galactosialidosis is inherited through an autosomal recessive pattern, meaning both parents must be carriers of the mutation and pass it on to their child. The majority of individuals with galactosialidosis are of Japanese descent.

How Is Galactosialidosis Diagnosed?

A urine test can be administered to detect an increase in sugar levels, particularly the sugar oligosaccharides. This disorder can also be diagnosed through genetic testing for the CTSA gene mutation.

Is There a Treatment?

While there is no cure, certain medications and therapies can be instituted to alleviate symptoms.

Helpful Resources

Rare Genomics Institute

The International Advocate for Glycoprotein Storage Diseases

National Institute of Health

Leukodystrophy Care Network