A new case of maternal phenylketonuria treated with sapropterin dihydrochloride (6R-BH4).
Gynecol Endocrinol
; 30(10): 691-3, 2014 Oct.
Article
em En
| MEDLINE
| ID: mdl-24927077
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Biopterinas
/
Fenilcetonúria Materna
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article