Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria

Dobbelaere, Dries; Michaud, Laurent; Debrabander, A.; Vanderbecken, Stéphane; Gottrand, Frédéric; Turck, Dominique; Farriaux, J. P.

doi:10.1023/a:1024063726046

Cited by 78 publications

(46 citation statements)

References 14 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%

“…At the start of the study growth retardation was observed in our PKU patients in comparison with controls, like Dobbelaere (2003), who found his PKU patients shorter and lighter than the reference population [24]. 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.…”

Section: Discussionmentioning

confidence: 79%

“…However, it is clear that the outcome of growth in PKU patients depends on the therapeutic approach, genetic background and novel alimentary substitutes. An international study comparing and evaluating these differences between centres would be extremely interesting [24]. …”

Section: Discussionmentioning

confidence: 99%

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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%

Section: Discussionmentioning

confidence: 79%

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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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“…Even though medical formulas have improved in nutritional quality and palatability over the years, the severely restrictive diet necessary for the treatment of PKU still carries risk of associated nutritional deficiencies. There have been reports of growth retardation and specific deficits such as calcium, iron, selenium, zinc or vitamin D and B12 deficiencies [8–10]. Signs of osteoporosis may develop at an early age [11].…”

Section: Introductionmentioning

confidence: 99%

Up to date knowledge on different treatment strategies for phenylketonuria

Bélanger-Quintana

Burlina

Harding

et al. 2011

Molecular Genetics and Metabolism

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Dietary management for phenylketonuria was established over half a century ago, and has rendered an immense success in the prevention of the severe mental retardation associated with the accumulation of phenylalanine. However, the strict low-phenylalanine diet has several shortcomings, not the least of which is the burden it imposes on the patients and their families consequently frequent dietary non-compliance. Imperfect neurological outcome of patients in comparison to non-PKU individuals and nutritional deficiencies associated to the PKU diet are other important reasons to seek alternative therapies. In the last decade there has been an impressive effort in the investigation of other ways to treat PKU that might improve the outcome and quality of life of these patients. These studies have lead to the commercialization of sapropterin dihydrochloride, but there are still many questions regarding which patients to challenge with sapropterin what is the best challenge protocol and what could be the implications of this treatment in the long-term. Current human trials of PEGylated phenylalanine ammonia lyase are underway, which might render an alternative to diet for those patients non-responsive to sapropterin dihydrochloride. Preclinical investigation of gene and cell therapies for PKU is ongoing. In this manuscript, we will review the current knowledge on novel pharmacologic approaches to the treatment of phenylketonuria.

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“…Adamczyk et al (15) reported normal MM only in those who adhered to their diet. Other studies reported no differences in MM, irrespective of diet compliance (19, 20). These conflicting results cannot be used in isolation to determine MM.…”

Section: Discussionmentioning

confidence: 85%

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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Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria

Cited by 78 publications

References 14 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

Up to date knowledge on different treatment strategies for phenylketonuria

Body Composition Profile of Young Patients With Phenylketonuria and Mild Hyperphenylalaninemia

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