Comparison of phenylalanine tolerance in singleton and twin pregnancies in patients with phenylketonuria.

Objectives: Empirical determination of phenylalanine (Phe) tolerance in patients with phenylketonuria (PKU) relies on frequent assessment of blood Phe concentrations in relation to Phe intake from detailed meal records. This study aimed to determine Phe tolerance in twin pregnancies.

Methods: The reviewed cases included three women with PKU who each had a singleton and twin pregnancy (i.

Carriership of the rs113883650/rs2287120 haplotype of the () gene increases the risk of obesity in infants with phenylketonuria.

Purpose: Phenylketonuria (PKU) can be effectively treated with the use of a low-phenylalanine diet. However, some patients become overweight despite proper dietary treatment. We hypothesized that this phenomenon could be explained by the presence of specific variants within the genes involved in phenylalanine transport or in the phenylalanine transamination/oxygenation pathway.