Article
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
Human gene therapy - 1 Jan 2024
Nagy Amanda, Eichler Florian, Bley Annette, Bredow Janna, Fay Alexander, Townsend Elise L, Leiro Beth, Shaywitz Adam, Laforet Genevieve, Crippen-Harmon Danielle, Williams Rachel
Abstract excerpt
Canavan disease (CD) is an ultra-rare autosomal recessive leukodystrophy caused by loss-of-function mutations in ASPA, which encodes aspartoacylase (ASPA), leading to accumulation of N-acetylaspartate (NAA). Patients with CD typically present with profound psychomotor deficits within the first 6 months of life and meet few motor milestones. Within CD a subset of patients exhibits a milder phenotype with more...
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