Galactosialidosis

What causes galactosialidosis?

Galactosialidosis is caused by mutations in the CTSA gene. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. Cathepsin A works together with two enzymes, neuraminidase 1 and beta-galactosidase, to form a protein complex. This complex breaks down sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) or fats (glycolipids). Cathepsin A is also found on the cell surface, where it forms a complex with neuraminidase 1 and a protein called elastin binding protein. Elastin binding protein plays a role in the formation of elastic fibers, a component of the connective tissues that form the body's supportive framework.

CTSA mutations interfere with the normal function of cathepsin A. Most mutations disrupt the protein structure of cathepsin A, impairing its ability to form complexes with neuraminidase 1, beta-galactosidase, and elastin binding protein. As a result, these other enzymes are not functional, or they break down prematurely.

Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes.

Last updated on 05-01-20

How is galactosialidosis inherited?

Galactosialidosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Last updated on 05-01-20

What is galactosialidosis?

Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene. It is characterized by coarse facial features, macular cherry-red spots, angiokeratoma (dark red spots on the skin), vertebral deformities, epilepsy, action myoclonus, and ataxia. There are three different types of galactosialidosis: early infantile, late infantile and juvenile/adult. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.

Last updated on 05-01-20

What is the prognosis for individuals with galactosialidosis?

Prognosis depends upon the type of galactosialidosis. Life expectancy for infantile galactosialidosis is one year of age or younger. Children with late infantile galactosialidosis survive through the first and into their second decade, with variable outcomes based on severity of symptoms. Individuals with juvenile/adult galactosialidosis generally have a normal life expectancy.

Last updated on 05-01-20

How might galactosialidosis be treated?

There is no cure for galactosialidosis. Treatment is symptomatic and supportive; for example, taking medication to control seizures. Individuals with galactosialidosis are encouraged to routinely see their genetic counselors, neurological, ophthalmological, and other specialists as symptoms arise and to keep symptoms controlled. Bone marrow transplant is under investigation as an experimental therapy. No conclusive results are currently available regarding the long term benefits of this treatment.

Last updated on 05-01-20

Name: Hide and Seek Foundation for Lysosomal Storage Disease Research 6475 East Pacific Coast Highway Suite 466
Long Beach, CA, 90803 , United States
Toll Free: (844) 762-7672 Email: info@hideandseek.org Url: https://hideandseek.org
Name: The International Advocates for Glycoprotein Storage Diseases (ISMRD) 20880 Canyon View Drive
Saratoga, CA, 95070, United States
Email: info@ismrd.org Url: https://www.ismrd.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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