Tetrahydrobiopterin and maternal PKU.
نویسندگان
چکیده
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.
منابع مشابه
Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran
To determine the prevalence of 6R-Tetrahydrobiopterin (BH4) responsive phenylketonuria (PKU) in 53 cases of patients with various classification of hyperphenylalaninemia and PKU Excluding the BH4 deficient type referring to children's medical center in Iran (phenylalanine 360-2420 μmol/L), the single dose of 20 mg/kg (Kuvan®) and duration of 24 h was used. RESULTS Among the 4 different catego...
متن کاملPhenylketonuria (PKU) – A Success Story
Phenylketonuria (PKU; OMIN 261600 and 261630) is an autosomal recessive geneticmetabolic disease. It is one of the most common of over 200 known such diseases, at least 30 of which have treatments to ameliorate the adverse effects. PKU is one of the first diseases causing mental and physical disability for which successful treatment has been developed. The cause of PKU is defective function of ...
متن کاملPotential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria.
OBJECTIVE To evaluate the clinical relevance of tetrahydrobiopterin (BH4) supplementation for pregnant women with phenylketonuria (PKU)/hyperphenylalaninemia (HPA) and the possibility of treating these patients with BH4 instead of a phenylalanine (Phe)-restricted diet. METHODS Genotyping was performed on 41 patients with PKU/HPA identified by newborn screening. Evaluating the genotype accordi...
متن کاملTetrahydrobiopterin responsiveness in patients with phenylketonuria.
OBJECTIVES To investigate the BH4 response in a group of patients with phenylketonuria (PKU) in order to offer this alternative treatment to the responsive patients. DESIGN AND METHODS The 24-h-long Phe/BH4 loading test was performed on 64 PKU patients requiring dietary treatment. RESULTS All patients with mild-PKU and 75% of patients with moderate-PKU were BH4 responsive, while only 11% of...
متن کاملLong-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.
We report on the long-term follow-up of the first Italian patient with the tetrahydrobiopterin (BH4)-responsive type of phenylalanine hydroxylase deficiency (R243X/Y414C genotype). The patient was diagnosed by the newborn screening for phenylketonuria (PKU) and with a positive BH4 loading test. Introduction of BH4 (initially 10 and later 20 mg/kg/day) in addition to reduced low-phenylalanine di...
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عنوان ژورنال:
- Molecular genetics and metabolism
دوره 86 Suppl 1 شماره
صفحات -
تاریخ انتشار 2005