Maternal and fetal tyrosinemia type I.

Abstract excerpt

A 22 year-old woman with tyrosinemia type I (HT1) married her first cousin who is heterozygous for the same FAH mutation for which the patient is homozygous. During her pregnancy she was treated with diet (prescribed tyrosine intake 300 mg/day), and nitisinone (60 mg/day). Median plasma tyrosine levels were 560 μmol/L (range: 375-838, n = 21) and nitisinone 51 μmol/L (range: 41-57, n = 3) during pregnancy. She...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child Development
• Share to Consanguinity
• Share to Diet, Protein-Restricted