Prenatal diagnosis of Canavan disease.

Spongy degeneration of the brain, Canavan disease (CD; McKusick 271900), is an autosomal recessive disorder prevalent among Ashkenazi Jews. The disease is a leukodystrophy manifested by macrocephaly, mental retardation and early death (Canavan 1931; van Bogaert and Bertrand 1967). Patients with Canavan disease excrete large amounts of β-acetylaspartic acid (NAA) in their urine and have a profound deficiency of aspartoacylase (EC 3.5.1.15) in their cultured skin fibroblasts and other tissues (Matalon et al 1988, 1989)