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AIM To study bone mineralization in a group of phenylketonuric patients and to search for a possible relationship between bone mineral density, dietary control, serum minerals and nutrition intake. The response to treatment with low-dose 1.25-(OH)2 vitamin D in patients with osteopenia was evaluated. METHODS Twenty-eight phenylketonuric patients (age(More)
AIM To evaluate the possible influence of dietary treatment on the quality of life of adult patients with PKU (phenylketonuria) following late introduction or resumption of a Phe-restricted diet. METHODS Fifteen adult patients with classical PKU (10F, 5M; mean age: 27.5 y, range: 16.4-37.5 y) were selected for the study. These patients had either resumed(More)
BACKGROUND Low serum ubiquinone-10 concentrations have been described in phenylketonuric patients fed natural-protein-restricted diets. Such low concentrations may be related to increased free radical damage. OBJECTIVE We evaluated the relation between low serum ubiquinone-10 concentrations and other lipophilic antioxidants (tocopherol and retinol),(More)
INTRODUCTION The WHO has qualified stress as a 'world epidemic' due to its increasingly greater incidence on health. The work described in this paper represents an attempt to objectively quantify the level of stress. AIM The aim of the method developed here is to measure how close or how far a subject is from a situation that can be considered 'normal' in(More)
Decreased serum ubiquinone-10 concentrations is a common condition in patients with phenylketonuria (PKU) under dietary treatment. Our aim was to investigate the implication of the metabolic abnormalities of PKU (low concentrations of tyrosine and high concentrations of phenylalanine) and the effect of treatment with phenylalanine-restricted diets in(More)
Abnormal oxidative stress was observed in some inborn errors of metabolism owing to the accumulation of toxic metabolites leading to excessive free radical production and to the influence of restricted diets on the antioxidant status. Erythrocyte antioxidant enzymes activities and tocopherol concentrations were measured in a group of phenylketonuric (n =(More)
INTRODUCTION PKU is an autosomal recessive disorder. There is a broad spectrum phenotype which depends mainly on residual enzymatic activity and also on other factors such as modifying genes and non-genetic factors. This fact makes us consider that a multidisciplinary study of these patients is necessary to improve knowledge of the condition. OBJECTIVE To(More)
BACKGROUND Ubiquinone-10 is a lipid with important metabolic functions that may be decreased in phenylketonuria (PKU) because patients with PKU consume diets restricted in natural proteins. OBJECTIVE We studied serum ubiquinone-10 concentrations in PKU patients. DESIGN This was a retrospective, transversal study in which we compared serum ubiquinone-10,(More)
The molecular detection of heterozygotes for hyperphenylalaninemia is difficult due to the large number of mutations in the PAH gene. For this reason, various indexes that measure plasma concentrations of phenylalanine (Phe) and tyrosine (Tyr), as an expression of Phe metabolizing capacity, have been used for the detection of carriers for mutations in the(More)