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Phenylalanine hydroxylase deficiency
Genetics in Medicine, 2011Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in approximately 1:15,000 individuals. Deficiency of this enzyme produces a spectrum of disorders including classic phenylketonuria, mild phenylketonuria, and mild ...
John J. Mitchell, Charles R Scriver
exaly +4 more sources
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
Journal of Pediatrics, 1999Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia after loading with tetrahydrobiopterin. There were no abnormalities in urinary pteridine excretion or in dihydropteridine reductase activity. However, mutations were detected in the phenylalanine hydroxylase gene, suggesting a novel subtype of phenylalanine ...
Osamu Sakamoto
exaly +3 more sources
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency
Metabolism, 2010Conflicting results have been reported concerning the efficacy of tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase, for reducing phenylalanine (Phe) concentration in phenylketonuria (PKU). We aimed to test quantitatively the effects of BH4 in PKU patients.
Ponzone A +5 more
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Diagnosis of Phenylalanine Hydroxylase Deficiency (Phenylketonuria)
Archives of Pediatrics & Adolescent Medicine, 1982Needle liver biopsies were carried out on patients with phenylketonuria (PKU) to establish a diagnosis either of partial or complete phenylalanine hydroxylase (PH) deficiency. Ten phenylketonuric patients and two parents were studied. Nine of the ten patients had completed a three-day oral phenylalanine challenge.
H K, Berry +3 more
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Treatment of phenylalanine hydroxylase deficiency
Acta Paediatrica, 1994In phenylalanine hydroxylase deficiency detected by screening treatment in early life, both age at start of treatment and phenylalanine control during treatment are the major determinants of eventual psychological status. The influence of phenylalanine control declines with age but executive performance is influenced by hyperphenylalaninaemia at all ...
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Mutational spectrum in German patients with phenylalanine hydroxylase deficiency†‡ [PDF]
Human Mutation, 2003 We report on the spectrum and frequency of mutations in the phenylalanine hydroxylase (PAH) gene in 226 German families with PAH deficiency, most of them from Southern Germany. A total of 88 mutations were identified in 428 out of 438 mutant PAH alleles including one novel stop mutation L293X (c.878T>A).
Christa, Aulehla-Scholz +1 more
exaly +3 more sources
European Journal of Pediatrics, 1996
The phenylalanine hydroxylase (PAH) deficiency trait is heterogeneous with a continuum of metabolic phenotypes ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). More than 200 mutations in the PAH gene are associated with PAH deficiency.
F, Güttler, P, Guldberg
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The phenylalanine hydroxylase (PAH) deficiency trait is heterogeneous with a continuum of metabolic phenotypes ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). More than 200 mutations in the PAH gene are associated with PAH deficiency.
F, Güttler, P, Guldberg
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Biochemistry, 1988
A novel restriction fragment length polymorphism in the phenylalanine hydroxylase (PAH) locus generated by the restriction endonuclease MspI was observed in a German phenylketonuria (PKU) patient. Molecular cloning and DNA sequence analyses revealed that the MspI polymorphism was created by a T to C transition in exon 9 of the human PAH gene, which ...
U, Lichter-Konecki +7 more
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A novel restriction fragment length polymorphism in the phenylalanine hydroxylase (PAH) locus generated by the restriction endonuclease MspI was observed in a German phenylketonuria (PKU) patient. Molecular cloning and DNA sequence analyses revealed that the MspI polymorphism was created by a T to C transition in exon 9 of the human PAH gene, which ...
U, Lichter-Konecki +7 more
openaire +2 more sources
Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency
Gene, 2013Phenylketonuria is an autosomal recessive inborn error of metabolism resulting from phenylalanine hydroxylase deficiency. Genetic basis of phenylalanine hydroxylase deficiency has been reported in various European and Asian countries with few reports available in Arab populations of the Mediterranean region.
Pascale E, Karam +3 more
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Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency
European Journal of Pediatrics, 2017The tetrahydrobiopterin (BH4) cofactor is essential for the activity of various enzymes, including phenylalanine (Phe) hydroxylase. In phenylketonuria (PKU) patients, who are chronically exposed to high Phe levels, high urinary excretion of BH4 metabolites neopterin and biopterin is observed.
NARDECCHIA, FRANCESCA +7 more
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