A Novel Homozygous Variant in the Aspartoacylase Gene Causes Canavan Disease-Case Report

Abstract

Glu178 is the active site residue essential for substrate affinity and catalytic activity of the aspartoacylase enzyme. Sanger sequencing in an infant with Canavan disease revealed a homozygous ASPA: c.532G>A: p. (Glu178Lys) variant. Glu178Lys is the first ever variant reported at the critical active site of aspartoacylase protein and this variant might significantly disrupt substrate interaction.

Keywords

• aspartoacylase
• brain
• canavan disease
• mutation
• myelin
• n-acetylaspartate