Inheritance: autosomal recessive
Gene: aspartoacylase gene on 17p13
The disorder can be found in Ashkenazi Jews and other groups.
Clinical features in severe disease:
(1) onset during infancy
(2) poor head control
(3) macrocephaly
(4) severe developmental delay
(5) optic atrophy
(6) seizures
(7) hypertonia
(8) death during childhood
Less severe forms may occur that result in moderate developmental delay.
Laboratory features:
(1) increased N-acetylaspartic acid in the urine
(2) decreased aspartoacylase activity in cultured skin fibroblasts
Neuropathologic findings:
(1) spongy degeneration in the white matter
(2) vacuolization of the myelin sheath
(3) swelling of astrocytes
(4) deformed mitochondria
