Maternal tyrosinaemia 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 mumol/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 mumol/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 25-50th per centiles.
Department of Nutrition and Dietetics, Royal Children's Hospital, Parkville, Victoria, Australia.
D E
DE
Francis
D M
DM
Kirby
G N
GN
Thompson
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy*; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D006801:Humans; D007231:Infant, Newborn / Q000097:blood; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications / Q000178:diet therapy*; D016896:Treatment Outcome; D014443:Tyrosine / Q000008:administration & dosage / Q000097:blood*; D014444:Tyrosine Transaminase / Q000378:metabolism*
D004044:Dietary Proteins; D014443:Tyrosine; D014444:Tyrosine Transaminase