phenylketonurias/tyrosine

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Melatonin and dopamine as biomarkers to optimize treatment in phenylketonuria: effects of tryptophan and tyrosine supplementation.

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OBJECTIVE To determine whether additional supplementation of tryptophan (Trp) and tyrosine (Tyr) improve serotonin and dopamine metabolism in individuals with phenylketonuria treated with large neutral amino acid (LNAA) tablets. METHODS Ten adult individuals with phenylketonuria participated in a

Plasma phenylalanine and tyrosine levels revisited in heterozygotes for hyperphenylalaninaemia.

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We examined the value of the fasting plasma phenylalanine/tyrosine ratio obtained in an ordinary clinical setting for assessing the probability of being a heterozygote for hyperphenylalaninaemia. This biochemical test was found to be of little value in those with a high (66%) prior risk of

Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey.

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Investigations into the biochemical markers associated with executive function (EF) impairment in children with early and continuously treated phenylketonuria (ECT-PKU) remain largely phenylalanine-only focused, despite experimental data showing that a high phenylalanine:tyrosine (phe:tyr) ratio is

[Intracellular concentration of phenylalanine, tyrosine and alpha-amino butyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals (author's transl)].

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Intracellular concentrations for phenylalanine, tyrosine, alpha-amino butyric acid and 7 other amino acids (glycine, alanine, valin, cystin, methionine, iso-leucin, leucin) were measured in lymphocytes of 13 homozygotes and 19 heterozygotes for phenylketonuria as well as in lymphocytes of 26

Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing.

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OBJECTIVE To evaluate the adequacy of dietary treatment in patients with phenylketonuria, the monitoring of plasma phenylalanine and tyrosine concentrations is of great importance. The preferable time of blood sampling in relation to the nutritional condition during the day, however, is not known.

On the brain barrier system function and changes of cerebrospinal fluid concentrations of phenylalanine and tyrosine in human phenylketonuria.

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In 6 patients with classic phenylketonuria (PKU) the plasma and cerebrospinal fluid (CSF) concentrations of phenylalanine and tyrosine were measured fluorimetrically. The results of the PKU group were compared with data obtained from 17 children without abnormal CSF parameters and free of metabolic

Tyrosine supplementation during pregnancy in a woman with classical phenylketonuria. A case report.

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A woman with classical phenylketonuria (PKU) adhered poorly to a phenylalanine-restricted diet but did receive tyrosine supplementation from the 14th week of gestation until delivery. At birth the infant demonstrated a head circumference more than two standard deviations below the mean but at 2

Inhibition by L-phenylalanine of tyrosine transport by synaptosomal plasma membrane vesicles: implications in the pathogenesis of phenylketonuria.

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The effect of L-phenylalanine on the transport of tyrosine was studied using membrane vesicles from rat brain synaptosomes. Phenylalanine, which is accumulated in phenylketonuria, competitively inhibits tyrosine uptake at concentrations similar to those found in phenylketonuric patients, with a Ki

Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria.

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In a group of 9 patients with classical phenylketonuria (PKU) aged 15-24 years we examined the effect of phenylalanine restricted diet on vigilance, as judged by the continuous visual reaction times, and neurotransmitter synthesis, as judged by cerebrospinal fluid (CSF) homovanillic acid (HVA) and

Associations between phenylalanine-to-tyrosine ratios and performance on tests of neuropsychological function in adolescents treated early and continuously for phenylketonuria.

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Phenylketonuria (PKU) is a genetic disorder characterized by hyperphenylalaninemia. Treatment involves dietary phenylalanine restriction to prevent mental retardation. Because phenylalanine is involved in tyrosine synthesis and tyrosine is a catecholamine precursor, low tyrosine may lead to brain

Effect of high-dose tyrosine supplementation on brain function in adults with phenylketonuria.

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OBJECTIVE To characterize abnormalities of brain function in patients with phenylketonuria (PKU) who had relaxed or stopped the dietary regimen and to test whether oral high-dose tyrosine (Tyr) supplementation has a beneficial effect. METHODS Comparison with a control group; double-blind,

The need of essential amino acids in children. An evaluation based on the intake of phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino transferase defect, and maple syrup urine disease.

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The diet of children with blocks in the metabolism of five amino acids has been investigated to evaluate the need for these amino acids in the maintenance of normal growth and development. Two children with phenylketonuria, one child with tyrosine aminotransferase defect and one child with maple

Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine.

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Seven phenylketonuria (PKU) patients aged 15-24 years were allowed unrestricted diet for 3 weeks. Three of these patients performed well on unrestricted diet according to visual reaction time variability (RTv 50-100 ms) and did not show significant changes when returning to the

[Serum tyrosine in children with phenylketonuria and mild hyperphenylalaninemia].

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Serum tyrosine concentration, Phe/Tyr scores and psychomotor/mental development scores were analysed in 32 children with phenylketonuria (PKU) and 39 with mild hyperphenylalaninaemia. Observation period included the first 6 years of life. Tendency to tyrosine deficiency was observed; stronger in

Phenylketonuria: tyrosine supplementation in phenylalanine-restricted diets.

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Treatment of phenylketonuria (PKU) consists of restriction of natural protein and provision of a protein substitute that lacks phenylalanine but is enriched in tyrosine. Large and unexplained differences exist, however, in the tyrosine enrichment of the protein substitutes. Furthermore, some

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