Abstract
Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and
lysosomal storage disease. The
disease is caused by the
deficiency of the
enzyme arylsulfatase A (ARSA) which is encoded by the ARSA
gene. Different
mutations have been reported in different
populations. The present study was aimed to detect the
mutation type of the ARSA
gene in three relative Iranian
patients. We found a novel homozygous
missense mutation c.1070 G > T (p.Gly357Val) in
exon 6 of these
patients. The
mutation was found to be reported for the first
time in MLD
patients. The data can update the
mutation profile and contribute toward improved clinical management and
counseling of MLD
patients.