Tetrahydrobiopterin and maternal PKU.
A 29-year-old woman with PKU is presented, who was successfully treated with phenylalanine restriction as well as oral BH4 during this pregnancy, with a normal outcome. Her PAH mutation was R408W/F39L. Remarkably, the blood phenylalanine control was easily accomplished during this pregnancy. The lack of nausea and vomiting during the first trimester suggests that the occurrence of CHD in babies born to women with PKU may be reduced with BH4.
Koch
Richard
R
Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA. rkoch8@earthlink.net
Moseley
Kathryn
K
Guttler
Flemming
F
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors; D001708:Biopterins / Q000031:analogs & derivatives* / Q000627:therapeutic use; D003131:Combined Modality Therapy; D018753:Diet, Protein-Restricted; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D010649:Phenylalanine / Q000008:administration & dosage / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D017042:Phenylketonuria, Maternal / Q000097:blood / Q000235:genetics / Q000628:therapy*; D010661:Phenylketonurias; D011247:Pregnancy
D001708:Biopterins; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; C003402:sapropterin