MATERNAL TYROSINEMIA-II - MANAGEMENT AND SUCCESSFUL OUTCOME

A 25-year-old woman with tyrosinaemia type II was treated from the 5th week of pregnancy with a protein-restricted diet supplemented with a tyrosine/phenylalanine-free amino acid mixture. Tyrosine concentrations were maintained in the range 100-200-mu-mol/l by restricting natural protein intake to 0.16 g/kg per 24 h in early pregnancy, with increases up to 0.38 g/kg per 24 h in the last trimester. This treatment maintained plasma phenylalanine concentrations in the range 20-40-mu-mol/l. Maternal weight gain and fetal growth were normal, and the mother remained asymptomatic throughout the pregnancy. A normal infant was born at term with length, weight and head circumference between the 25-50 th per centiles.