Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.

ABSTRACT: Urea cycle disorders (UCDs) are rare inherited metabolic conditions that impair the effectiveness of the urea cycle responsible for removing excess ammonia from the body. The estimated incidence of UCDs is 1:35 000 births, or approximately 113 new patients with UCD per year. This review summarizes neuropsychological outcomes among patients with the eight UCDs in reports published since 1980. Rates of intellectual disabilities published before (and including) 2000 and after 2000 were pooled and compared for each UCD. Since diagnoses for UCDs tended to occur earlier and better treatments became more readily available after the turn of the century, this assessment will characterize the extent that current management strategies have improved neuropsychological outcomes. The pooled sample inclu

SUBMITTER: Waisbren SE 

PROVIDER: S-EPMC7250134 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature