Document Detail

Tetrahydrobiopterin and maternal PKU.
MedLine Citation:
PMID:  16338627     Owner:  NLM     Status:  MEDLINE    
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.
Richard Koch; Kathryn Moseley; Flemming Guttler
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  86 Suppl 1     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2005-12-12     Completed Date:  2006-05-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  S139-41     Citation Subset:  IM    
Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
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MeSH Terms
Amino Acid Metabolism, Inborn Errors
Biopterin / analogs & derivatives*,  therapeutic use
Combined Modality Therapy
Diet, Protein-Restricted*
Infant, Newborn
Neonatal Screening
Phenylalanine / administration & dosage,  blood
Phenylalanine Hydroxylase / genetics
Phenylketonuria, Maternal / blood,  genetics,  therapy*
Reg. No./Substance:
17528-72-2/5,6,7,8-tetrahydrobiopterin; 22150-76-1/Biopterin; 63-91-2/Phenylalanine; EC Hydroxylase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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