Sialidoosiin

Sialidoosiin is a rare lysosomal storage disorder that affects the body's ability to break down sialic acid, a type of sugar molecule. This breakdown is normally carried out by an enzyme called alpha-neuraminidase. When this enzyme is deficient or doesn't function properly, sialic acid accumulates in various tissues, particularly in the brain, eyes, and skin, leading to a range of symptoms.

The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. There are several subtypes of sialidoosiin, distinguished by the severity of symptoms and the age of onset. Infantile forms are typically more severe and manifest early in life, while milder adult-onset forms may present later with neurological and visual impairments.

Clinical manifestations can include intellectual disability, seizures, visual problems such as corneal clouding and optic atrophy, and characteristic skin changes like angiokeratomas. The progressive accumulation of sialic acid disrupts normal cellular function and leads to the characteristic signs and symptoms of the disease. Diagnosis is usually made through enzyme assays that measure alpha-neuraminidase activity and genetic testing to identify mutations in the corresponding gene. There is currently no cure for sialidoosiin, and treatment focuses on managing symptoms and providing supportive care. Research is ongoing to explore potential therapeutic strategies, including enzyme replacement therapy and gene therapy.