The T1405N carbamoyl phosphate synthetase polymorphism does not affect plasma arginine concentrations in preterm infants.

ABSTRACT:

Background

A C-to-A nucleotide transversion (T1405N) in the gene that encodes carbamoyl-phosphate synthetase 1 (CPS1) has been associated with changes in plasma concentrations of L-arginine in term and near term infants but not in adults. In preterm infants homozygosity for the CPS1 Thr1405 variant (CC genotype) was associated with an increased risk of having necrotizing enterocolitis (NEC). Plasma L-arginine concentrations are decreased in preterm infants with NEC.

Aim

To examine the putative association between the CPS1 T1405N polymorphism and plasma arginine concentrations in preterm infants.

Methods

Prospective multicenter cohort study. Plasma and DNA samples were collected from 128 preterm infants (<30 weeks) between 6 and 12 hours after birth. Plasma amino acid

SUBMITTER: Moonen RM 

PROVIDER: S-EPMC2876028 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature