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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Potential 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 according to their BH4 responsiveness is published. Follow-up of 3 patients with mild PKU treated with BH4 is evaluated. Discussion of the transfer of these experiences to the possibility of treating mothers at risk for maternal PKU is presented. RESULTS: In 41 patients with PKU/ HPA, we found 17 (41%) bearing at least 1 allele with a mutation described as being responsive to BH4. In 8 of the patients, BH4 loading had been performed in the newborn period, in 6 of whom the test showed a clear decrease of blood Phe 4 and 8 hours after loading. One of the nonresponders was reinvestigated at 3 years of age, showing a clear response (genotype Y414C/R408W): BH4 supplementation resulted in a much higher Phe tolerance (500 instead of 250 mg/day) with blood Phe levels <200 micromol/L. Two children (genotype E390G/IVS10-11g>a and L48S/L48S, respectively) were treated with BH4 only (15-20 mg/kg body weight/day), one from birth, the other from 2 years of age. Blood Phe decreased from >800 micromol/L to a mean of 321.4 and 331.7 micromol/L, respectively (range: 141-718 micromol/L) under a normal diet (total observation time: 4 years). Development was normal with no adverse reactions. CONCLUSIONS: BH4 supplementation seems to be a promising alternative treatment in some patients with mild PKU. Because blood Phe levels in maternal PKU should be maintained at 120 to 360 micromol/L, clinical relevance may be even greater than for treatment of children with PKU/ HPA. BH4 supplementation may also be combined with a Phe-restricted diet, allowing higher Phe intake and protecting mothers from high Phe blood peaks. However, additional studies are necessary to prove the safety and economy of such an alternative treatment in patients with PKU/ HPA, especially during pregnancy.[1]

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