Baudouin François

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Phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are allelic disorders caused by mutations in the gene encoding phenylalanine hydroxylase (PAH). Previous studies have suggested that the highly variable metabolic phenotypes of PAH deficiency correlate with PAH genotypes. We identified both causative mutations in 686 patients from seven European(More)
The main debate in the treatment of Phenylketonuria (PKU) is whether adult patients need the strict phenylalanine (Phe)-restricted diet. Physicians and patients lack evidence-based guidelines to help them make well-informed choices. We have carried out the first randomised double-blind placebo-controlled trial into the effects of short-term elevation of Phe(More)
The present short-term N-balance study in adult PKU patients receiving a mixture of LNAA establishes a limited retention of nitrogen. Whether lysine could be the limiting amino acid remains to be determined by new short-term N-balance studies, with lysine added to the LNAA mixture. Therefore, special caution should be taken in the long-term use in PKU(More)
Neonatal hyperphenylalaninaemia caused by mutations in the gene encoding phenylalanine hydroxylase (PAH) represents a wide spectrum of metabolic phenotypes, ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). The marked interindividual heterogeneity is due to the expression of multiple PAH mutations in genetic compounds. We(More)
Deficiency of the cytosolic enzyme thymidine phosphorylase (TP) causes a multisystem disorder called mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome. Clinical symptoms are gastrointestinal dysfunction, muscle involvement and neurological deterioration. TP deficiency is biochemically characterised by accumulation of thymidine and(More)
Classical phenylketonuria is an autosomal recessive disease caused by a deficiency of hepatic phenylalanine hydroxylase (PAH). The abolition of an invariant BamHI site located in the coding sequence of the PAH gene (exon 7) led to the recognition of two new point mutations at codon 272 and 273 (272gly----stop and 273ser----phe, respectively). Both mutations(More)
Gtutaric aciduria type I is a rare inborn error in the degradation of tysine, hydroxylysine and tryptophan due to a deficiency of glutaryl coenzyme A dehydrogenase activity (Goodman and Kolhoff, 1975). The clinical picture is characterized by dystonia, choreoathetosis or encephalitis-like illness. Diagnosis is made by organic acid analysis of urine,(More)
There is now convincing evidence that early institution of a phenylalanine-restricted diet is effective in the prevention of severe mental deficits in patients with phenylketonuria (McKusick 26160). The usual treatment goal has been to achieve a strict control of serum phenylalanine (phe) levels below 600 IlmollL during early childhood. However, a gradual(More)
Type I 5′-deiodinase was recently characterized as a selenocysteine-containing enzyme in humans and other mammals. Up to now, the effect of selenium (Se) supplementation on thyroid hormone metabolism in humans has only been reported in the very peculiar nutritional environment of Central Africa, where combined severe iodine and Se deficiency occurs. In this(More)