Publications by authors named "Nilo Lambruschini"
Objective: Sapropterin dihydrochloride, the synthetic form of 6R-tetrahydrobiopterin (BH4), is an approved drug for the treatment of patients with BH4-responsive phenylketonuria (PKU). The purpose of this study was to assess genotypes and data on the long-term effects of BH4/sapropterin on metabolic control and patient-related outcomes in 6 large European countries.
Methods: A questionnaire was developed to assess phenotype, genotype, blood phenylalanine (Phe) levels, Phe tolerance, quality of life, mood changes, and adherence to diet in PKU patients from 16 medical centers.
Patients having inborn errors of intermediary metabolism (IEMs) may have element deficiencies related to dietary treatment. Our objective was to study several elements [cobalt (Co), copper (Cu), zinc (Zn), selenium (Se), manganese (Mn), molybdenum (Mo) and magnesium (Mg)] in patients with IEMs with and without dietary treatment and to compare these results with those established in a healthy paediatric population. We studied 72 patients with IEMs (age range 2 months-44 years; median 10.
View Article and Find Full Text PDFObjectives: To evaluate LCPUFA composition in PKU patients treated with BH(4).
Design And Methods: Cross-sectional study of plasma and erythrocyte LCPUFA composition of 13 PKU patients treated with BH(4) compared with data from 48 PKU patients on protein-restricted diet, and 17 mild HPA patients on free diet. PUFA were analysed by gas chromatography.
Objectives: To evaluate deoxypyridinoline as a resorption marker in phenylketonuria (PKU) and to search for a relationship between deoxypyridinoline, calcium/creatinine index (Ca/Cr I), osteocalcin and bone alkaline phosphatase (BAP).
Methods: This was a transversal analytical study of 46 PKU patients [17.5 (4-38) years].
The clinical, nutritional, and neuropsychological data of 11 mild/moderate PKU patients after one year of treatment with BH4 are evaluated. BH4 monotherapy was introduced at 5 mg/kg/day in 14 PKU patients. In 11/14 patients, Phe tolerance increased significantly from 356+/-172 to 1546+/-192 mg/day (p=0.
View Article and Find Full Text PDFObjectives: To investigate the BH4 response in a group of patients with phenylketonuria (PKU) in order to offer this alternative treatment to the responsive patients.
Design And Methods: The 24-h-long Phe/BH4 loading test was performed on 64 PKU patients requiring dietary treatment.
Results: All patients with mild-PKU and 75% of patients with moderate-PKU were BH4 responsive, while only 11% of classic-PKU patients showed good/partial response (P < 0.
Objectives: To investigate the implications of the three main factors of the antioxidant system reported in relation to oxidative damage in phenylketonuric patients: selenium, ubiquinone-10 (Q10) and antioxidant enzymes over 3 years of metabolic follow-up.
Design And Methods: Longitudinal study of 46 phenylketonuric patients (age range: 6 months-34 years). Antioxidants were measured by atomic absorption spectrophotometric, chromatographic and spectrophotometric procedures.
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), selenium, glutathione peroxidase activity, and malondialdehyde concentrations as a marker of lipid peroxidation.
Objectives: To investigate the ubiquinone-10 content in lymphocytes from phenylketonuric patients.
Design And Methods: We compared 23 patients with 25 age-matched controls. Ubiquinone-10 was analyzed by HPLC with electrochemical detection.