Urine <i>N</i>-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.

ABSTRACT: 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 milestone acquisition, possibly related to greater residual ASPA activity. An ongoing CD natural history study and a literature search were leveraged to compare urine NAA levels and associated genotypes in patients classified with mild or typical CD, with the hypothesis that urine NAA levels reflect ASPA activity and therefore can distinguish between the two phenotypes. U

SUBMITTER: Nagy A 

PROVIDER: S-EPMC11807896 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature