Neurometabolic Disease: Case Report

Introduction Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance (1). This neurodegenerative disorder is caused by a defect in the aspartoacylase (ASPA) gene encoding the critical enzyme aspartoacylase, which has the role of hydrolyzing N-acetyl-L-aspartic acid (NAA) and providing the acetyl group to oligodendrocytes for myelin synthesis (2, 3). Aspartoacylase deficiency results in the reduction of myelin biosynthesis, dysmyelination and brain edema (4). Although CD is very common in Ashkenazi Jews, several cases have also been reported from non-Jewish population (4). To date mutation analysis on ASPA gene among Jewish and non-Jewish patients has revealed more than 70 different types of mutations (2). E285A (p.Glu285Ala) and Y231X (p.Tyr231X) mutations are the most common types of mutations identified among Ashkenazi Jews (more than 98% of reported mutations) while A305E (p.Ala305Glu) is the most common among non-Ashkenazi Jewish population (about 30-60% of reported mutations) (5, 6). This report is based on a homozygous C.202G>A mutation in the ASPA gene of an Iranian patient. To our knowledge, this mutation was not reported in non-Jewish population in Iran.