Single centre retrospective review of plasma branched-chain amino acid levels in children with urea cycle disorders: Impact of treatment modalities and disease severity.

ABSTRACT: Branched-chain amino acids (BCAAs) are important for normal growth, development, and function. In urea cycle disorders (UCDs), plasma BCAA levels can be relatively low; this has been attributed variously to low protein intake, hyperammonaemia, and nitrogen scavenger treatment. We undertook a retrospective review of plasma BCAA levels in individuals with UCDs comprising ornithine carbamoyltransferase deficiency (OTCD n = 22), arginosuccinate lyase deficiency (ASLD n = 12), and argininosuccinate synthase deficiency (ASSD n = 6). Scavenger treatment groups comprised sodium benzoate (NaBz, n = 20), sodium phenylbutyrate (NaPBA, n = 5), NaBz+NaPBA (n = 14), and a control group receiving neither NaBz nor NaPBA (n = 14). In these treatment groups, respect

SUBMITTER: Yeo M 

PROVIDER: S-EPMC11786853 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature