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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A previous observation of decreased serum carnitine concentrations in phenylketonuria (PKU) was investigated in 169 patients either on a strict diet (n = 107; median: 8.1 years) or off diet (n = 62; median: 15.0 years). Fifty-seven metabolically healthy children (median: 8.5 years) served as controls. PKU patients on a strict diet and older than 2 years had significantly lower serum carnitine concentrations (19.4 +/- 5.4 mumol/l) than those off diet (29.6 +/- 6.7 mumol/l). PKU patients on diet also had significantly lower concentrations of haemoglobin and serum ferritin than those off diet. A linear correlation existed between total serum carnitine and ferritin concentrations up to 40 micrograms/l (r = 0.52; P less than 0.01). As iron is an essential cofactor of carnitine synthesis we conclude that reduced endogenous carnitine synthesis due to an inadequate availability of iron may be a major cause of low serum carnitine concentrations. The low carnitine content of the strict and highly protein-reduced diet additionally contributes to a decrease in the serum carnitine concentration. Our results show that a further optimization of the PKU diet increasing either iron availability or carnitine intake should be considered.
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PMID:Inadequate iron availability as a possible cause of low serum carnitine concentrations in patients with phenylketonuria. 204 Mar 52

Treatment for phenylketonuria (PKU) involves using low phenylalanine-free or phenylalanine-free formulas and supplementation with sufficient phenylalanine for normal growth and development. Eighteen infants with phenylketonuria who received breast milk as their primary phenylalanine source were compared with ten other infants with PKU who received their phenylalanine primarily from infant formulas. There were no significant differences between breast-fed and formula-fed infants for serum phenylalanine, serum tyrosine, length, weight, head circumference, haematocrit, haemoglobin, serum iron, total iron binding capacity, percentage iron saturation, ferritin, plasma zinc and total calorie intake. Breast-fed infants did show lower mean corpuscular volume at 3 months and 6 months of age. Breast-fed infants had lower phenylalanine intake at 2, 4, 5 and 6 months of age. Breast-fed infants at 1, 2, 3, 4, 5 and 6 months of age had lower protein intake. Breast feeding may be continued in the newly diagnosed phenylketonuric infant without any apparent adverse nutritional consequences.
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PMID:The management of breast feeding among infants with phenylketonuria. 251 78

Iron (Fe) status and Fe supplementation were assessed in 20 children with phenylketonuria (PKU) through dietary intake and through measurements of ferritin, hematocrit, hemoglobin, mean cellular hemoglobin, mean cellular volume, serum Fe, total iron binding capacity, unbounded iron binding capacity, transferrin saturation and transferrin. Findings were compared to reference values and to data from age-matched controls. The prescribed phenylalanine-restricted diet supplied all the recommended nutrients. Dietary Fe was present in the diets, but its bioavailability is questionable as several laboratory results were not within accepted reference values. A ferrous sulphate supplement (5 mg elemental Fe/kg daily) was given for 120 days to a group of PKU children with lower Fe parameters, thus changing some of the parameters studied. Serum ferritin (p < 0.1), transferrin saturation and serum Fe (p < 0.05) increased after the treatment. The need for improved diagnosis of Fe status and determination of whether PKU children can benefit from therapeutic Fe is discussed.
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PMID:Iron status and iron supplementation in children with classical phenylketonuria. 826 69

A retrospective study of 53 patients with phenylketonuria (PKU), whose disease was managed with a low-phenylalanine diet, revealed a high incidence of iron depletion (as reflected by subnormal serum ferritin concentrations). Serum ferritin concentrations under 10 micrograms/l were found in one out of six infants aged 5-12 months. Concentrations under 16 micrograms/l were found in 16 of 22 children aged 1-3 years and in 11 of 25 children aged 4-12 years. Dietary iron, estimated from prescribed intakes of medical foods, exceeded the Canadian recommended nutrient intake, suggesting that low stores of iron may be secondary to reduced bioavailability and absorption of iron. These findings suggest that the current dietary management of PKU is associated with an increased risk for low iron stores. Investigators have reported an association in young children between iron-deficiency anaemia and both cognitive and motor disturbances. Children with PKU, already at risk of neurological damage because of phenylalanine neurotoxicity, may be at increased risk as a result of iron depletion. Serum ferritin as well as haemoglobin concentration should be monitored, along with plasma phenylalanine and tyrosine, to ensure optimum treatment of affected children.
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PMID:Low iron stores in infants and children with treated phenylketonuria: a population at risk for iron-deficiency anaemia and associated cognitive deficits. 844 22

Chemically defined or elemental medical foods provide the majority of protein equivalent in the diets of children treated for phenylketonuria (PKU). Because of the restricted intake of high biologic value protein, children with PKU often have lower than normal plasma concentrations of ferritin and zinc. Few reported studies are available on vitamin status of children with PKU undergoing treatment. This report addresses intakes of iron, zinc and vitamin A and their plasma concentrations in children ingesting either a low phenyl-alanine (Phe) casein hydrolysate or a Phe-free L-amino acid mix. With significantly greater than recommended mean intakes of iron and low to recommended mean intakes of zinc, individual plasma ferritin concentrations were often in the deficient (< 12 ng/ml) or marginal (12 < 20 ng/ml) range; plasma zinc concentrations were usually normal when patients received an L-amino acid mix. When L-amino acids were the source of protein equivalent for infants, 48% of plasma retinol concentrations were in the marginal (20 < 30 micrograms/dl) or deficient range (< 20 micrograms/dl) in spite of most vitamin A intakes being greater than Recommended Dietary Allowance for age. Some hypothetical reasons for low concentrations of plasma ferritin and retinol are discussed.
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PMID:Nutrition studies in treated infants and children with phenylketonuria: vitamins, minerals, trace elements. 882 30

Twenty-seven infants with classical phenylketonuria were evaluated longitudinally for 6 mo while ingesting Phenex-1 Amino Acid Modified Medical Food With Iron as their primary protein source. Intake of selected nutrients and biochemical indices of trace and ultratrace mineral status and plasma retinol and alpha-tocopherol concentrations were evaluated. The means of iron status indices (complete blood count, plasma ferritin, iron, transferrin saturation, total iron binding capacity) and the plasma concentrations of trace and ultratrace minerals (copper, manganese, molybdenum, selenium, zinc) and plasma retinol and alpha-tocopherol were in the reference ranges. Vitamin A intakes (r = 0.49, p < 0.05) and plasma retinol-binding protein concentrations (r = 0.42, p < 0.05) were positively correlated with plasma retinol concentrations at 3 mo of study. At 6 mo, concentrations of plasma transthyretin (r = 0.72, p < 0.01) and retinol-binding protein (r = 0.48, p < 0.05) were positively correlated with plasma retinol concentrations. At 6 mo, concentrations of plasma transthyretin (r = 0.52, p < 0.05) were positively correlated with retinol-binding protein concentrations. Phenex-1 supports normal mean iron status indices and mean concentrations of trace and ultratrace minerals, retinol, and alpha-tocopherol when fed in adequate amounts.
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PMID:Plasma micronutrient concentrations in infants undergoing therapy for phenylketonuria. 1006

Natural sources of protein and some vitamins and minerals are limited in phenylketonuria (PKU) treated patients, who should receive optimal supplementation although this is not yet fully established. We conducted a cross-sectional observational multicenter study including 156 patients with hyperphenylalaninemia. Patients were stratified by age, phenotype, disease detection and type of treatment. Annual median blood phenylalanine (Phe) levels, Phe tolerance, anthropometric measurements, and biochemical parameters (total protein, prealbumin, electrolytes, selenium, zinc, B12, folic acid, ferritin, 25-OH vitamin D) were collected in all patients. 81.4% of patients had biochemical markers out of recommended range but no clinical symptoms. Total protein, calcium, phosphorus, B12, ferritin, and zinc levels were normal in most patients. Prealbumin was reduced in 34.6% of patients (74% with PKU phenotype and 94% below 18 years old), showing almost all (96.3%) an adequate adherence to diet. Selenium was diminished in 25% of patients (95% with PKU phenotype) and also 25-OHD in 14%. Surprisingly, folic acid levels were increased in 39% of patients, 66% with classic PKU. Phosphorus and B12 levels were found diminished in patients with low adherence to diet. Patients under BH4 therapy only showed significant lower levels of B12. This study shows a high percentage of prealbumin and selenium deficiencies as well as an increased level of folic acid in PKU treated patients, which should lead us to assess an adjustment for standards supplements formulated milks.
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PMID:Vitamin and mineral status in patients with hyperphenylalaninemia. 2612 87