Nutrition, physical growth, and bone density in treated phenylketonuria

Przyrembel, Hildegard; Bremer, H. J.

doi:10.1007/pl00014376

Cited by 59 publications

(34 citation statements)

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“…Treatment for PKU patients consists of restriction of Phe intake, through natural-protein-restricted diets supplemented with phenylalanine-free amino acid mixtures enriched with trace elements, vitamins, and minerals (Przyrembel and Bremer 2000;Giovannini et al 2007;Poustie and Wildgoose 2010). When the disorder is diagnosed and treated promptly at an early age, mental retardation can be prevented, although mild neuropsychological findings, such as poor school performance and a slight reduction in the intelligence quotient may occur, especially when careful dietary compliance is not achieved (Weglage et al 1995).…”

Section: Introductionmentioning

confidence: 98%

Oxidative Stress in Phenylketonuria: What is the Evidence?

et al. 2011

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Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by severe deficiency of phenylalanine hydroxylase activity, leading to the accumulation of phenylalanine and its metabolites in blood and tissues of affected patients. Phenylketonuric patients present as the major clinical feature mental retardation, whose pathomechanisms are poorly understood. In recent years, mounting evidence has emerged indicating that oxidative stress is possibly involved in the pathology of PKU. This article addresses some of the recent developments obtained from animal studies and from phenylketonuric patients indicating that oxidative stress may represent an important element in the pathophysiology of PKU. Several studies have shown that enzymatic and non-enzymatic antioxidant defenses are decreased in plasma and erythrocytes of PKU patients, which may be due to an increased free radical generation or secondary to the deprivation of micronutrients which are essential for these defenses. Indeed, markers of lipid, protein, and DNA oxidative damage have been reported in PKU patients, implying that reactive species production is increased in this disorder. A considerable set of data from in vitro and in vivo animal studies have shown that phenylalanine and/or its metabolites elicit reactive species in brain rodent. These findings point to a disruption of pro-oxidant/antioxidant balance in PKU. Considering that the brain is particularly vulnerable to oxidative attack, it is presumed that the administration of appropriate antioxidants as adjuvant agents, in addition to the usual treatment based on restricted diets or supplementation of tetrahydrobiopterin, may represent another step in the prevention of the neurological damage in PKU.

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Section: Introductionmentioning

confidence: 98%

Oxidative Stress in Phenylketonuria: What is the Evidence?

et al. 2011

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“…Treatment of PKU patients consists of restriction of phenylalanine intake, which means a natural protein restricted diet supplemented with a phenylalanine-free amino acid mixture enriched with some essential micronutrients, such as vitamins, minerals and trace elements [2]. Dietary treatment prevents severe neurological damage in PKU, although mild neuropsychological troubles, such as poor school performance, a slight reduction in intelligence quotient or the presence of tremor may arise, especially when careful dietary compliance is not achieved [3].…”

Section: Introductionmentioning

confidence: 99%

A longitudinal study of antioxidant status in phenylketonuric patients

Artuch¹,

Colomé²,

Sierra³

et al. 2004

Clinical Biochemistry

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“…O trabalho de Pzvrembel et al 19 , que avaliou nutrição, crescimento físico e densidade óssea Taylor et al 20 avaliaram os níveis de elementos traço no cabelo e no soro de 25 crianças recebendo dieta com baixo teor de fenilalanina. Os níveis de zinco, cálcio e cobre encontrados no cabelo foram significativamente menores em pacientes com fenilcetonúria em relação aos controles.…”

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Metabolismo do cálcio na fenilcetonúria

et al. 2009

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A Fenilcetonúria é um erro inato do metabolismo do aminoácido fenilalanina. O tratamento é essencialmente dietético e envolve uma restrição severa no consumo de alimentos contendo aminoácido fenilalanina. Embora a alimentação seja complementada com fórmulas a fim de suprir as necessidades de vitaminas, minerais e aminoácidos essenciais, carências nutricionais ainda ocorrem. Isto se deve, principalmente, à restrição de fontes protéicas, que acarreta deficiência na ingestão de diversos nutrientes, dentre eles o cálcio. O cálcio possui importante relação com a formação mineral óssea. Estudos recentes demonstram que portadores de fenilcetonúria apresentam freqüentemente osteopenia e fraturas, sendo a maior incidência em crianças acima de 8 anos de idade. O rápido aumento da estatura, a dieta deficiente em cálcio e níveis de aminoácido fenilalanina elevados têm sido descritos como os principais fatores para a aquisição de massa óssea inadequada. A suplementação de cálcio em crianças saudáveis mostrou um efeito positivo sobre a aquisição de massa óssea na fase da pré-puberdade. Assim, torna-se relevante compreender a necessidade da suplementação de cálcio em pacientes fenilcetonúria, a fim de favorecer o desenvolvimento ósseo esperado. Termos de indexação: Densidade óssea. Fenilcetonúria. Metabolismo de cálcio. A B S T R A C T Phenylketonuria is an inborn error of the metabolism of the amino acid phenylalanine. The treatment is essentially dietetic and involves a severe restriction in the consumption of foods containing aminoacid phenylalanine. Although the diet is complemented with supplements in order to

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Nutrition, physical growth, and bone density in treated phenylketonuria

Abstract: Changes have been found, although inconsistently, in connection with selenium, zinc, iron, retinol and polyunsaturated fatty acid status in dietetically treated patients with phenylketonuria. Both the mechanism and significance of these changes is doubtful at present.

Cited by 59 publications

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Oxidative Stress in Phenylketonuria: What is the Evidence?

Oxidative Stress in Phenylketonuria: What is the Evidence?

A longitudinal study of antioxidant status in phenylketonuric patients

Metabolismo do cálcio na fenilcetonúria

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