Galactosamine-6-sulfatase deficiency

Galactosamine-6-sulfatase deficiency is a rare genetic disorder that affects the body's ability to break down certain complex molecules. It is a type of lysosomal storage disease, specifically a mucopolysaccharidosis (MPS), and is also known as Morquio syndrome type B or MPS IVB.

Causes[edit | edit source]

Galactosamine-6-sulfatase deficiency is caused by mutations in the GALNS gene. This gene provides instructions for producing the enzyme galactosamine-6-sulfatase, which is necessary for the breakdown of large sugar molecules called glycosaminoglycans (GAGs). When the GALNS gene is mutated, it results in a deficiency of the galactosamine-6-sulfatase enzyme, leading to an accumulation of GAGs in the body's cells and tissues.

Symptoms[edit | edit source]

The symptoms of galactosamine-6-sulfatase deficiency can vary widely in severity and may include dwarfism, skeletal abnormalities, corneal clouding, and heart disease. Some individuals may also experience hearing loss and respiratory problems.

Diagnosis[edit | edit source]

Diagnosis of galactosamine-6-sulfatase deficiency typically involves a combination of clinical examination, genetic testing, and enzyme analysis. The diagnosis can be confirmed by measuring the activity of the galactosamine-6-sulfatase enzyme in the individual's blood or cells.

Treatment[edit | edit source]

There is currently no cure for galactosamine-6-sulfatase deficiency. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include physical therapy, surgery to correct skeletal abnormalities, and medications to manage heart disease and respiratory problems.