A new case of maternal phenylketonuria treated with sapropterin dihydrochloride (6R-BH4).

Abstract

PURPOSE:

A woman with phenylketonuria (PKU) was diagnosed through neonatal screening, her PAH mutation was p.V388M/p.I65T, for which she received treatment with phenylalanine restriction, and was administered oral sapropterin dihydrochloride (6R-BH(4)) from the age of thirty. The purpose of this article is to describe the treatment with BH4 during her pregnancy and to evaluate a plan for its use.

METHODS:

The patient had an unplanned pregnancy at 34 years of age, for which she received a phenylalanine-free supplement enriched with essential fatty acids, vitamins and trace elements.

RESULTS:

The dose of 6R-BH(4) was reduced from 500 mg/day to 100 mg/day until its suspension in the 28th week of gestation, and was well tolerated. Blood phenylalanine control was easily accomplished during this pregnancy, and no nutritional deficiency was seen.

CONCLUSION:

The pregnancy had a normal outcome, and so we consider that adaptation of the dose of 6R-BH(4) to the prenatal periods aided a greater efficiency and a lower risk in the treatment of maternal PKU.

• Authors: Luis Aldámiz-Echevarría, Maria L Couce, Marta Llarena, Fernando Andrade
• Journal: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology (Gynecol Endocrinol) Vol. 30 Issue 10 Pg. 691-3 (Oct 2014) ISSN: 1473-0766 [Electronic] England
• PMID: 24927077 (Publication Type: Case Reports, Journal Article)

Chemical References

• Biopterin
• sapropterin

Topics

• Adult
• Biopterin (administration & dosage, analogs & derivatives, pharmacology)
• Female
• Humans
• Phenylketonuria, Maternal (drug therapy)
• Pregnancy
• Treatment Outcome