Canavan's disease is a rare genetic disorder that belongs to the group of leukodystrophies - diseases in which the white matter (myelin layer) in the brain is damaged. The cause is a mutation in the ASPA gene, which is responsible for the enzyme aspartoacylase. The enzyme deficiency causes N-acetylaspartate (NAA) to accumulate in the brain, which leads to progressive damage to the nerve cells.

Typical features often appear in the first few months of life and include delayed motor development, hypotonia (reduced muscle tone), macrocephaly (enlarged head) and later weakness, spasticity and mental developmental delay.

Diagnosis is usually based on genetic testing and imaging techniques such as MRI, which show characteristic changes in the white matter.