Decreased bone mineralization in children with phenylketonuria under treatment

Hillman, Laura S.; Schlotzhauer, Cathy L.; Lee, D.; Grasela, J.; Witter, S.; Allen, Susan H.; Hillman, Richard E.

doi:10.1007/pl00014234

Cited by 58 publications

(95 citation statements)

References 7 publications

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“…Perez-Duenas et al [6] observed the same levels of OC and BALP in a group of younger patients and significantly lower serum BALP activity in older subjects (>18 years of age). Hillman et al [4] reported results, similar to ours, that bone formation markers (BALP, OC) were significantly lower in prepubertal PKU patients than in controls. Our results concerning the formation as well as resorption markers suggest a decreased bone turnover rate in prepubertal children with PKU compared to controls.…”

supporting

confidence: 89%

A study of bone turnover markers in prepubertal children with phenylketonuria

Ambroszkiewicz¹,

Gajewska²,

Laskowska-Klita³

2004

European Journal of Pediatrics

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supporting

confidence: 89%

A study of bone turnover markers in prepubertal children with phenylketonuria

Ambroszkiewicz¹,

Gajewska²,

Laskowska-Klita³

2004

European Journal of Pediatrics

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“…Other studies also find no correlations between dietary calcium, protein, and energy intake and BMD, BMD Z-score or BTM in patients of any age (Carson et al 1990;McMurry et al 1992;Hillman et al 1996;Modan-Moses et al 2007;Lage et al 2010). Positive correlations have been reported, however, between total calcium and phosphorus intake and BMD Z-score (PerezDuenas et al 2002) and calcium and protein from medical food and spine BMD (Geiger et al 2016).…”

Section: Discussionmentioning

confidence: 96%

Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency

et al. 2017

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Phenylalanine hydroxylase (PAH) deficiency is a genetic disorder characterized by deficiency of the PAH enzyme. Patients follow a phenylalanine-restricted diet low in intact protein, and must consume synthetic medical food (MF) to supply phenylalanine-free protein. We assessed relationships between dietary intake and nutrient source (food or MF) on bone mineral density (BMD) and bone turnover markers (BTM) in PAH deficiency. Blood from 44 fasted females 11-52 years of age was analyzed for plasma phenylalanine, serum BTM [CTx (resorption), P1NP (formation)], vitamin D, and parathyroid hormone (PTH). BTM ratios were calculated to assess resorption relative to formation (CTx/P1NP). Dual energy X-ray absorptiometry measured total BMD and age-matched Zscores. Three-day food records were analyzed for total nutrient intake, nutrients by source (food, MF), and compliance with MF prescription. Spearman's partial coefficients (adjusted for age, BMI, energy intake, blood phenylalanine) assessed correlations. All had normal BMD for age (Z-score >À2). Sixty-four percent had high resorption and normal formation indicating uncoupled bone turnover. CTx/P1NP was positively associated with food phenylalanine (r 2 ¼ 0.39; p-value ¼ 0.017), energy (r 2 ¼ 0.41; p-value ¼ 0.011) and zinc (r 2 ¼ 0.41; pvalue ¼ 0.014). CTx/P1NP was negatively associated with MF fat (r 2 ¼ À0.44; p-value ¼ 0.008), MF compliance (r 2 ¼ À0.34; p-value ¼ 0.056), and positively with food sodium (r 2 ¼ 0.43; p-value ¼ 0.014). CTx/ P1NP decreased significantly with age (p-value ¼ 0.002) and higher PTH (p-value ¼ 0.0002). Phenylalanine was not correlated with any bone indicator. Females with PAH deficiency had normal BMD but elevated BTM, particularly resorption. More favorable ratios were associated with nutrients from MF and compliance. Younger females had less favorable BTM ratios. Promoting micronutrient intake through compliance with MF may impact bone metabolism in patients with PAH deficiency. Synopsis: Bone mineral density was normal in 44 females with PAH deficiency; however, bone turnover markers suggested uncoupling of bone resorption and formation, particularly in younger patients. Adequate nutrient intake from medical food and overall medical food compliance may positively impact bone turnover.

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“…Hilman et al 21 , para avaliar os efeitos da dieta na mineralização óssea, compararam crianças portadoras de fenilcetonúria com crianças normais sob alguns parâmetros de homeostase mineral e mineralização ósseos. Onze crianças PKU foram comparadas com crianças normais.…”

Section: Classificaçãounclassified

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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Decreased bone mineralization in children with phenylketonuria under treatment

Cited by 58 publications

References 7 publications

A study of bone turnover markers in prepubertal children with phenylketonuria

A study of bone turnover markers in prepubertal children with phenylketonuria

Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency

Metabolismo do cálcio na fenilcetonúria

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