Which of the following conditions is associated with a deficiency of aspartoacylase?

The condition associated with a deficiency of aspartoacylase is Canavan Disease. This disorder is a type of leukodystrophy, which specifically impacts the brain's white matter due to a lack of proper myelin formation. Aspartoacylase is an enzyme that breaks down N-acetyl aspartate (NAA) in the brain; its deficiency leads to an accumulation of NAA, which is neurotoxic and disrupts normal brain function.

Individuals with Canavan Disease typically present with developmental delays, loss of motor skills, and hypotonia. The disease is inherited in an autosomal recessive pattern and is more prevalent among individuals of Ashkenazi Jewish descent.

Understanding Canavan Disease and its association with aspartoacylase deficiency highlights the importance of enzyme function in neurological health and the pathophysiological mechanisms that underlie specific genetic disorders.