How Do You Spell NEONATAL CANAVAN DISEASE?
Pronunciation: [nˈiːə͡ʊnˌe͡ɪtə͡l kˈanɐvˌan dɪzˈiːz] (IPA) 
Pronunciation: [nˈiːə͡ʊnˌe͡ɪtə͡l kˈanɐvˌan dɪzˈiːz] (IPA)
Neonatal Canavan Disease is a rare genetic disorder that affects the central nervous system. It is characterized by the absence or malfunction of an enzyme called aspartoacylase, which is responsible for breaking down a substance called N-acetyl-L-aspartate (NAA) in the brain.
Babies with Neonatal Canavan Disease typically exhibit symptoms shortly after birth or within the first few months of life. These symptoms include developmental delays, lack of muscle tone (hypotonia), feeding difficulties, and an enlarged head size (macrocephaly). As the disease progresses, affected individuals may experience seizures, difficulty swallowing, and loss of motor skills.
The build-up of NAA in the brain causes damage to the white matter, specifically the myelin sheath, which acts as an insulator and allows for efficient nerve signal transmission. Consequently, the loss of myelin disrupts the normal functioning of nerve cells, leading to the impairments observed in individuals with Neonatal Canavan Disease.
This disorder is inherited in an autosomal recessive pattern, meaning that an affected individual must inherit two copies of the defective gene, one from each parent, to develop the disease. Neonatal Canavan Disease is most commonly observed in individuals of Ashkenazi Jewish descent, although it can affect people of any ethnic background.
Currently, there is no cure for Neonatal Canavan Disease. Treatment consists of managing symptoms and providing supportive care to improve the affected individual's quality of life. Ongoing research is focused on developing potential therapies that target the underlying cause of the disease.
