📘 Canavan Disease · Aspartoacylase Deficiency

Nelson Textbook of Pediatrics 22nd Ed — Section 105.15. ASPA gene mutations → spongy degeneration of white matter. Macrocephaly, hypotonia, developmental regression, seizures. Elevated N-acetylaspartic acid (NAA) in urine/CSF, MRI shows diffuse white matter changes. Supportive care, gene therapy trials ongoing.