Galactosialidosis
Galactosialidosis (pronounced ga-lac-to-si-a-li-do-sis) is a rare genetic metabolic disorder that affects many areas of the body. The term is derived from the Greek words "galacto" meaning milk, "sial" meaning saliva, and "osis" meaning abnormal condition or disease.
Definition
Galactosialidosis is a lysosomal storage disease characterized by a combined deficiency of beta-galactosidase and neuraminidase, two enzymes necessary for the breakdown and recycling of certain molecules in the body's cells. This deficiency leads to an abnormal accumulation of certain substances, particularly in the lysosomes, which are compartments within cells that break down and recycle different types of molecules.
Symptoms
Symptoms of Galactosialidosis can vary widely in severity and may include organomegaly (enlargement of organs), cherry-red spot in the eyes, coarse facial features, bone abnormalities, and intellectual disability.
Causes
Galactosialidosis is caused by mutations in the CTSA gene, which provides instructions for making a protein that is involved in the breakdown of certain sugars. This disorder is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations.
Diagnosis and Treatment
Diagnosis of Galactosialidosis is based on the clinical symptoms, biochemical studies showing deficient beta-galactosidase and neuraminidase activity, and genetic testing confirming a mutation in the CTSA gene. Treatment is symptomatic and supportive, and may include physical therapy, special education, and other medical interventions as needed.
See Also
References
- National Organization for Rare Disorders. (n.d.). Galactosialidosis. Retrieved from https://rarediseases.org/rare-diseases/galactosialidosis/
- Genetics Home Reference. (n.d.). Galactosialidosis. Retrieved from https://ghr.nlm.nih.gov/condition/galactosialidosis
External links
- Medical encyclopedia article on Galactosialidosis
- Wikipedia's article - Galactosialidosis
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