Aspartoacylase deficiency disease, also known as Canavan disease, is a rare genetic disorder characterized by the absence or dysfunction of the enzyme aspartoacylase. This disorder primarily affects the central nervous system.
Aspartoacylase is responsible for breaking down a compound called N-acetylaspartic acid (NAA) in the brain. In individuals with this deficiency, there is a buildup of NAA, leading to the destruction of white matter in the brain and subsequent neurological problems.
The symptoms of aspartoacylase deficiency disease often appear in early infancy, typically within the first few months of life. Affected infants may demonstrate poor muscle tone (hypotonia), developmental delays, and difficulty achieving developmental milestones such as sitting and walking. Seizures, feeding difficulties, and abnormal muscle movements are also commonly observed.
Aspartoacylase deficiency disease is an autosomal recessive disorder, meaning that both parents must carry a mutated copy of the gene for a child to be affected. Genetic testing is often conducted to confirm a diagnosis.
Unfortunately, there is no cure for aspartoacylase deficiency disease. Treatment aims to manage symptoms and improve the quality of life for affected individuals. Supportive therapies such as physical, occupational, and speech therapy are often utilized. Medications may be prescribed to help control seizures and manage symptoms related to muscle stiffness and spasms.
The prognosis for individuals with aspartoacylase deficiency disease varies but is generally poor. Most affected individuals have a shortened lifespan and experience severe neurological impairment throughout their lives. However, ongoing research into potential therapies and treatments may provide hope for future advancements in the management of this condition.
