Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachroma
tic leukodystrophy (MLD). A number of ARSA gene mutations responsible
for MLD have been identified. Recently, the R496H mutation of ARSA was
proposed to be a cause of MLD (Draghia et al., 1997). We have investi
gated the R496H mutation and found this mutation at a relatively high
frequency in an African American population (f = 0.09, n = 61 subjects
). The ARSA enzyme activity in subjects with and without the R496H mut
ation was determined and found to be normal. It is therefore concluded
that the R496H mutation of ARSA does not negatively influence the act
ivity of ARSA and is not a cause of MLD. Hum Mutat 12:238-239, 1998. (
C) 1998 Wiley-Liss, Inc.