How Do You Spell TYPE I CANAVAN DISEASE?
Pronunciation: [tˈa͡ɪp a͡ɪ kˈanɐvˌan dɪzˈiːz] (IPA) 
Pronunciation: [tˈa͡ɪp a͡ɪ kˈanɐvˌan dɪzˈiːz] (IPA)
Type I Canavan disease is a rare genetic disorder characterized by the deficiency of an enzyme called aspartoacylase. It is an autosomal recessive disorder, meaning that it occurs when an individual inherits two copies of a mutated gene, one from each parent.
Aspartoacylase is responsible for breaking down a substance called N-acetylaspartic acid (NAA) in the brain. In individuals with Type I Canavan disease, the lack of functional aspartoacylase leads to the accumulation of NAA, which in turn damages the myelin sheath, which is the protective covering of nerve cells in the brain. This disruption in myelin development results in severe neurological symptoms.
The symptoms of Type I Canavan disease typically appear in infancy and progress rapidly. Common symptoms include poor muscle tone, developmental delay, and an inability to reach motor milestones such as sitting, standing, or walking. Individuals may also experience feeding difficulties, enlarged head size, seizures, and intellectual disability.
Currently, there is no cure for Type I Canavan disease, and treatment primarily focuses on managing symptoms. Supportive care measures such as physical therapy, speech therapy, and occupational therapy may help improve quality of life and maximize developmental potential.
Genetic counseling is recommended for families with a history of Canavan disease, as carriers of the mutated gene have a 25% chance of having an affected child.
