Alternative Names & Classifications:
Aspartoacylase Deficiency (CLINICAL)
Description
This inherited leukodystrophy is caused by a mutation in the ASPA gene, leading to a deficiency of the enzyme aspartoacylase. Without this enzyme, an acid called NAA builds up to destructive levels in the brain, stripping away the protective myelin sheath surrounding nerve fibers. It is predominantly found in individuals of Ashkenazi Jewish descent and typically leads to death in childhood.