Canavan Disease

Canavan Disease is a rare, inherited neurological disorder belonging to a group of genetic conditions known as leukodystrophies, which affect the growth and maintenance of myelin, the protective coating around nerve fibers in the brain.

The condition is characterized by progressive degeneration of the white matter in the brain. Affected infants appear normal at birth but typically begin showing symptoms within the first few months of life. Early signs include developmental delays, weak muscle tone (hypotonia), and difficulties with head control.

As the disease progresses, children develop an abnormally large head (macrocephaly), seizures, feeding difficulties, visual impairment, and severe intellectual disability. Most children with Canavan disease do not survive past the first decade of life, although some individuals with milder forms may live into their teens or twenties.

Canavan disease is caused by mutations in the ASPA gene, which provides instructions for making an enzyme called aspartoacylase. This enzyme breaks down a compound called N-acetyl-L-aspartic acid (NAA) in the brain. Without functional aspartoacylase, NAA accumulates to toxic levels, damaging the brain's white matter. The condition is more common in individuals of Ashkenazi Jewish descent.

NutraHacker examines the following gene related to Canavan Disease:

• ASPA

For more information about your own genetic profile as related to Canavan Disease, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.