Impact of Metabolic Control on Bone Quality in Phenylketonuria and Mild Hyperphenylalaninemia

Porta, Francesco; Mussa, Alessandro; Zanin, Anna; Greggio, Nella Augusta; Burlina, Alberto; Spada, Marco

doi:10.1097/mpg.0b013e3182093b32

Cited by 17 publications

(15 citation statements)

References 47 publications

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“…This suboptimal bone profile does not necessarily lead to increased fracture rate; however, data on this field are contradictory (18). On the other hand, patients with mHPA had normal growth as reported previously (16) and their MM and FM were not different from the reference population; however, LS BMD was decreased in comparison to controls. To our knowledge, there was no other study concerning BMD assessment of patients with mHPA by DXA.…”

Section: Discussionsupporting

confidence: 78%

“…It is well established that bone health in PKU is at risk of morbidities. Numerous studies have shown low BMD in patients with PKU, which is attributed to different predisposing factors including low protein as well as fatty acid intake (14, 15) and the disorder itself through a direct toxic effect of excessive Phe on bones (16). Our patients had lower TB BMD than controls.…”

Section: Discussionmentioning

confidence: 99%

“…TB measurement represents cortical bone status and is influenced mostly by nutrition. A study in young adults with PKU reported a lower peak bone mass than controls (17) and another group of researchers reported low cortical thickness, with quantitative ultrasonography (16). This suboptimal bone profile does not necessarily lead to increased fracture rate; however, data on this field are contradictory (18).…”

Section: Discussionmentioning

confidence: 99%

“…To our knowledge, there was no other study concerning BMD assessment of patients with mHPA by DXA. There was only one study on bone quality, conducted with a different method (quantitative ultrasonography), which reports no significant abnormalities (16). Considering that lumbar spine measurements refer to the evaluation of trabecular bone, which shows very active bone turnover, the finding that in mHPA patients it is the spine that is affected the most, is intriguing and needs further investigation, ideally with parallel evaluation of metabolic bone markers.…”

Section: Discussionmentioning

confidence: 99%

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Body Composition Profile of Young Patients With Phenylketonuria and Mild Hyperphenylalaninemia

Doulgeraki

Skarpalezou

Theodosiadou

et al. 2014

Int J Endocrinol Metab

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Background:There is evidence in support of low bone density in young patients with disorders of phenylalanine metabolism; however, little is known about muscle and fat mass in these patients, especially in those with mild hyperphenylalaninemia (mHPA).Objectives:We aimed to evaluate body composition of children and adolescents with early-diagnosed disorders of phenylalanine metabolism.Patients and Methods:The study was conducted in the Institute of Child Health, which is the national center that performs newborn screening. Bone, muscle, and fat mass of 48 patients with phenylketonuria (PKU) and 32 patients with mild mHPA, aged five to 18 years, were compared to 57 age- and sex-matched controls. Dual energy X-ray absorptiometry was used for this purpose.Results:Compared to controls, bone mineral density (BMD) was lower in patients with PKU (mean total body BMD z score, 0.11; P = 0.03) and in those with mild mHPA (mean lumbar BMD z score, -0.34; P = 0.01). Lean body mass and fat mass were not significantly affected in the study group. Comparison between the two patients groups did not reveal any difference in body composition profiles; however, pubertal status appeared important for within-group comparisons. Fat mass was significantly increased in teenagers with PKU, which was more evident in those with poor dietary compliance irrespective of gender (fat mass z score, 0.66; P = 0.018). Finally, positive correlations were found not only between bone, muscle, and fat mass in both groups, but also between fat mass and Phenylalanine levels in patients with PKU (r, 0.46; P = 0.001).Conclusions:Bone mineral density appears suboptimal in young patients with disorders of phenylalanine metabolism. Adolescents seemed more prone to obesity, especially when their dietary adherence was poor, whereas muscle mass was not considerably affected. To ensure healthier bones and less fat content, close follow-up as well as proper lifestyle advice is needed.

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Body Composition Profile of Young Patients With Phenylketonuria and Mild Hyperphenylalaninemia

Doulgeraki

Skarpalezou

Theodosiadou

et al. 2014

Int J Endocrinol Metab

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“…A csökkent csontsűrűség mellé fogászati rendellenességek és kiegyensúlyozatlan csontnövekedés is társulhat [5]. A tö-rési kockázatot mindössze egyetlen kutatás vizsgálta, mely 2,6-szeres kockázatnövekedést talált az egészséges kontrollcsoporthoz képest [6].…”

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Csontanyagcsere felnőtt phenylketonuriás pácienseknél – hazai adatok

2017

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Bevezetés: Nemzetközi irodalmi adatokból ismert, hogy a phenylketonuriás páciensek csontsűrűsége csökkent az egészséges populációhoz képest, ennek hátterében számos tényező állhat. Magyarországon mindeddig nem történt átfogó felmérés a felnőtt betegek csontanyagcseréjéről. Célkitűzés: Vizsgálatunk célja volt felmérni a korán kezelt, hazai felnőtt phenylketonuriás betegek csontsűrűségének időbeli változását a metabolikus kontroll függvényében. Módszer: Monocentrikus kutatásunkban négyéves intervallumban ismételten mértük 59 felnőtt páciens csontsűrűsé-gét kettős energiájú röntgenabszorpciometria módszerével a combnyakon és a lumbalis csigolyán. A diétahűséget a vér átlagos fenilalanin-, tirozin-szintjei és ezek hányadosa alapján határoztuk meg, majd a fenil-alanin-szintek alapján két alcsoportot alakítottunk ki. Vizsgáltuk a csontsűrűség és az átlagos fenilalanin-tirozin közötti összefüggést, illetve összehasonlítottuk a két alcsoport kezdeti csontsűrűségét és változását. Eredmények: A medián fenilalanin-szint 614 (182-1222) μmol/l, a medián tirozinszint 49 (24-99) μmol/l, míg a fenilalanin/tirozin arány 16 (4,5-35) volt. A kronológiai korhoz képest alacsony csontsűrűség kilenc páciensnél fordult elő. Az átlagos csontsűrűség-változás a combnyakon +0,0380 (-0,1550-0,7800) g/cm 2 , a lumbalis csigolyán +0,0120 (-0,57300-0,3130) g/cm 2 volt. A vér aminosavszintjei, illetve a csontsűrűség változása között korreláció nem volt kimutatható. A diétát jól betartó és a lazább diétát tartó alcsoportok csontsűrűsége között különbséget nem találtunk. Következtetések: Magyarországon elsőként vizsgáltunk születésüktől kezelt, felnőtt phenylketonuriás betegeket csontsűrűség szempontjából. Eredményeinkből arra következtethetünk, hogy fiatal felnőtt korban, pár évre vonatkoztatva érdemi csontvesztés nem jelentkezik, és a metabolikus kontroll szignifikánsan nem befolyásolja a csontsűrűséget. Orv Hetil. 2017; 158(47): 1868-1872. Kulcsszavak: phenylketonuria, csont, csontsűrűség, felnőtt, diéta Bone metabolism in adults with phenylketonuria -Hungarian dataIntroduction: Patients with phenylketonuria have lower bone mineral density compared to healthy people, however, the ethiology of these alterations is not clear. Hungarian data were missing in this topic. Aim: The main aim of our study was to survey the correlation between metabolic control and change of bone mineral density in early treated Hungarian adult patients with phenylketonuria. Method: In this monocentric study bone mineral density of 59 adult PKU patients have been repeatedly measured in a 4-year interval using dual-energy X-ray absorptiometry. Two subgroups have been established based on average blood phenylalanine levels. The correlation between the change in bone mineral density and average phenylalanine, tyrosine concentrations have been determined while initial bone mineral density and change have also been examined in the subgroups. Results: Mean phenylalanine concentration was 614 (182-1222) micromol/L, whereas mean tyrosine concentration was 49 (24-99) micromol/L ...

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Constitutional bone impairment in Noonan syndrome

Baldassarre

Mussa²,

Carli

et al. 2017

American J of Med Genetics Pt A

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Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism. In this study, we investigated the bone quality assessed by phalangeal quantitative ultrasound (QUS) and the metabolic bone profiling in a group of patients with NS, to determine whether low bone mineralization is primary or secondary to NS characteristics. Thirty-five patients were enrolled, including 20 males (55.6%) and 15 females (44.5%) aged 1.0-17.8 years (mean 6.4 ± 4.5, median 4.9 years). Each patients was submitted to clinical examination, estimation of the bone age, laboratory assays, and QUS assessment. Twenty-five percent of the cohort shows reduced QUS values for their age based on bone transmission time. Bone measurement were adjusted for multiple factors frequently observed in NS patients, such as growth retardation, delayed bone age, retarded puberty, and reduced body mass index, potentially affecting bone quality or its appraisal. In spite of the correction attempts, QUS measurement indicates that bone impairment persists in nearly 15% of the cohort studied. Our results indicate that bone impairment in NS is likely primary and not secondary to any of the phenotypic traits of NS, nor consistent with metabolic disturbances. © 2017 Wiley Periodicals, Inc.

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Impact of Metabolic Control on Bone Quality in Phenylketonuria and Mild Hyperphenylalaninemia

Abstract: Good compliance with treatment in PKU during adolescence and adulthood is desirable because diet discontinuation is associated with bone loss. Mild HPA seems not to be complicated by bone damage.

Cited by 17 publications

References 47 publications

Body Composition Profile of Young Patients With Phenylketonuria and Mild Hyperphenylalaninemia

Body Composition Profile of Young Patients With Phenylketonuria and Mild Hyperphenylalaninemia

Csontanyagcsere felnőtt phenylketonuriás pácienseknél – hazai adatok

Constitutional bone impairment in Noonan syndrome

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