Aspartoacylase deficiency diseases, also known as Canavan disease, are a group of inherited metabolic disorders that primarily affect the central nervous system. This rare and progressive condition is caused by mutations in the ASPA gene, resulting in a deficiency or absence of the enzyme aspartoacylase.
Aspartoacylase plays a vital role in the breakdown and recycling of a compound called N-acetyl-L-aspartic acid (NAA) in the brain. In individuals with aspartoacylase deficiency, the accumulated levels of NAA lead to the destruction of myelin, the protective covering of nerve cells. This progressive loss of myelin disrupts the normal functioning of nerve cells, causing severe damage to the brain.
Symptoms of aspartoacylase deficiency diseases usually become apparent within the first few months of life and can vary in severity among affected individuals. Common signs and symptoms may include delayed development, regression of acquired milestones, weak muscle tone (hypotonia), feeding difficulties, seizures, and an enlarged head size (macrocephaly).
Unfortunately, there is currently no cure for aspartoacylase deficiency diseases. Treatment primarily focuses on managing symptoms and improving quality of life. Supportive care techniques, such as physical therapy, occupational therapy, and speech therapy, aim to maximize an individual's potential and enhance their independence. Additionally, medications may be prescribed to control seizures and manage other symptoms.
Given the complexity of aspartoacylase deficiency diseases, a multidisciplinary approach involving various healthcare professionals, including neurologists, geneticists, and social workers, is crucial for providing optimal care and support to affected individuals and their families.
