The diagnosis of neonatal/infantile<unk>  relies on demonstration of very high concentration of N-acetylaspartic acid (NAA) in the urine. In mild/juvenile<unk> , NAA may only be slightly elevated; thus, the diagnosis relies on molecular genetic testing of ASPA, the gene encoding the enzyme aspartoacylase.
Canavan disease
Menkes disease
Akureyri disease
CADASIL
White dot syndromes
Keshan disease
Farber disease
Familial British dementia