Nutrient Intake and Growth of Infants with Phenylketonuria Undergoing Therapy

Acosta, Phyllis B.; Yannicelli, Steven; Marriage, Barbara J.; Mantia, Carol; Gaffield, Barbara; Porterfield, Melanie; Hunt, Melanie M.; McMaster, N; Bernstein, Laurie; Parton, Patricia; Kuehn, Marilyn; Lewis, Vyoone

doi:10.1097/00005176-199809000-00003

Cited by 37 publications

(31 citation statements)

References 18 publications

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“…European studies [25-29] found similar growth retardation during the first years of life followed by restoration of the normal growth curve from the second year or later, supporting our results that 65.6% of the patients were under 10 years of age and all of them showed a significant catch up of growth at the follow-up study. In agreement with other authors, we found no correlation between phe levels and growth [24, 25, 30, 31]. However, it is clear that the outcome of growth in PKU patients depends on the therapeutic approach, genetic background and novel alimentary substitutes.…”

Section: Discussionsupporting

confidence: 92%

A long-term study of bone mineral density in patients with phenylketonuria under diet therapy

Koura¹,

Ismail²,

Kamel³

et al. 2011

aoms

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IntroductionDietary control of classic phenylketonuria (PKU) needs restriction of natural proteins; adequate protein intake is achieved by adding low phenylalanine (phe) formulae. The adequacy of this diet for normal bone mineralization had not been sufficiently evaluated. Our aim was to evaluate and follow up bone mineral density (BMD) in children and adolescents with PKU within a 2-year time interval to assess the adequacy of a phenylalanine restricted diet for bone mineralization and to search for a possible relationship between BMD, dietary control and blood phenylalanine (phe) concentrations.Material and methodsThirty-two patients with classic PKU (3-19 years) were evaluated for their bone mineral status using dual energy X-ray absorptiometry (DEXA) both at the beginning (baseline) and the end (follow-up) of the study.ResultsLow BMD was detected in 31.25% at the start and in 6.25% of patients after 2 years follows-up. No relationship was found between BMD and the duration of diet compliance and phe level as well.ConclusionsIn this study the low BMD detected in our patients was both at baseline and follow-up independent of diet restriction. A yearly DEXA would be highly beneficial for early detection and treatment, thus preventing osteoporosis and decreasing the risk of fractures. We also suggest the importance of searching for new emerging therapies such as enzyme substitution or gene therapy as low protein diet compliance was not enough to maintain normal bone mineral density.

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Section: Discussionsupporting

confidence: 92%

A long-term study of bone mineral density in patients with phenylketonuria under diet therapy

Koura¹,

Ismail²,

Kamel³

et al. 2011

aoms

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“…A smaller number of studies focused on the relation of head circumference and protein intake in PKU infants, but the results of these studies were not conclusive (Acosta and Yannicelli 1994;Acosta et al 1998). Studies that investigated causes for the retarded height growth in PKU patients focused on low blood Phe concentrations, a deficiency of tyrosine or a deficient intake of total protein.…”

Section: Lc-pufa In Infancy and Childhoodmentioning

confidence: 99%

Phenylketonuria: Dietary and therapeutic challenges

Giovannini

Verduci

Salvatici

et al. 2007

J of Inher Metab Disea

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PKU subjects need special attention in the definition of optimal supplementation of nutrients, which may be insufficient in relation to the type of diet and may otherwise manifest symptoms of deficit. In particular, it is necessary to pay great attention to the long-chain polyunsaturated fatty acid (LC-PUFA) levels in relation to correct development of the central nervous system. On the basis of numerous beneficial effects currently known, a permanent supplementation with LC-PUFAs, in particular with docosahexaenoic acid, should be considered. Moreover, new formulas, Phe-free peptides, and 'modulated' amino acid preparations might help in preventing nutritional deficiencies and imbalances, with the ultimate aim of improving growth. New strategies--such as supply of tetrahydrobiopterin--need to be optimized in terms of targets, patients and expected outcomes.

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“…It may influence growth, as there are differences in growth patterns between various groups/countries (Verkerk et al 1994; Hoeksma et al 2005; Acosta et al 1998; Schaefer et al 1994; Dobbelaere et al 2003). It clearly may result in deficiencies of, for example, long-chain unsaturated fatty acids and vitamin B 12 (Hanley et al 1993; Hvas et al 2006; Huemer et al 2008).…”

Section: Drawbacks Of the Dietary Treatmentmentioning

confidence: 99%

Mild hyperphenylalaninemia: to treat or not to treat

Spronsen

2011

J of Inher Metab Disea

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One of the issues to be resolved in phenylketonuria is whether patients with mild hyperphenylalaninemia need treatment, or in other words, in what patients treatment needs to be started. Do patients need treatment when phenylalanine concentrations in blood are >360 μmol/L or >600 μmol/L? This paper reviews the literature on the outcome of untreated patients with mild hyperphenylalaninemia to try to determine whether outcome is normal. The paper concludes that there is, in fact, only one paper that can be used to answer this question. Therefore, the question is whether we may rely on one paper to draw conclusions or whether more research is necessary to determine whether all patients with phenylalanine concentrations >360 μmol/L or all patients with phenylalanine concentrations >600 μmol/L require treatment.

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Nutrient Intake and Growth of Infants with Phenylketonuria Undergoing Therapy

Abstract: Phenex-1 supports normal growth when fed in adequate amounts. These data support those of the Medical Research Council Working Party on Phenylketonuria for 3 g/kg per day of amino acids from medical food.

Cited by 37 publications

References 18 publications

A long-term study of bone mineral density in patients with phenylketonuria under diet therapy

A long-term study of bone mineral density in patients with phenylketonuria under diet therapy

Phenylketonuria: Dietary and therapeutic challenges

Mild hyperphenylalaninemia: to treat or not to treat

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