Prenatal diagnosis of canavan disease
Copyright policy )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)
- Boston Children's Hospital United States
- University of Illinois at Chicago United States
- Miami Children's Hospital United States
Aspartic Acid, Amniotic Fluid, Amidohydrolases, Pregnancy, Prenatal Diagnosis, Humans, Female, Amnion, Chorionic Villi, Cells, Cultured
Aspartic Acid, Amniotic Fluid, Amidohydrolases, Pregnancy, Prenatal Diagnosis, Humans, Female, Amnion, Chorionic Villi, Cells, Cultured
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