Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy

Acosta, Phyllis B.; Yannicelli, Steven; Singh, Rani H.; Mofidi, Shideh; Steiner, Robert D.; DeVincentis, Ellen; Jurecki, Elaina; Bernstein, Laurie; Gleason, Sally T.; Chetty, Malini; Rouse, Bobbye

doi:10.1016/s0002-8223(03)00983-0

Cited by 73 publications

(49 citation statements)

References 29 publications

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“…One hypothesis was that the low phenylalanine diet, which is typically rich in carbohydrate content, contributes to overweight in PKU patients [1,2]. However, caloric intake calculated from diet records of PKU patients has revealed caloric intake that is similar to or lower than recommended, but the accuracy of the diet records cannot be determined [1,9,20]. Interestingly, in this study population, the mean BMI z-score trended higher in non-compliant female patients as compared to compliant female patients.…”

Section: Discussionmentioning

confidence: 64%

“…As these children grew older, a later analysis confirmed that treated PKU patients had a higher mean body weight relative to a control population [8]. A more recent study examining the body mass index (BMI) in 67 North American PKU patients (ages 2-11 years) over a one year period between 1996 and 1999 also identified a tendency for PKU patients to be overweight, although the results were not statistically significant [9]. Likewise, a recent study in a PKU population in Spain demonstrated that females with severe PKU who were greater than 13 years of age and males with severe PKU who were greater than 18 years of age were significantly heavier than a control population [10].…”

Section: Introductionmentioning

confidence: 96%

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High prevalence of overweight and obesity in females with phenylketonuria

Burrage

McConnell

Haesler

et al. 2012

Molecular Genetics and Metabolism

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Section: Discussionmentioning

confidence: 64%

Section: Introductionmentioning

confidence: 96%

High prevalence of overweight and obesity in females with phenylketonuria

Burrage

McConnell

Haesler

et al. 2012

Molecular Genetics and Metabolism

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“…That is, patients are typically recommended to follow a PKU diet, which consists of a marked reduction in natural protein diet, and supplementation with Phe-free amino acids mixture. Average protein intake was 1.3-1.5 times above Recommended Dietary Allowances (RDA) [18]. Nutritional diet was weekly assessed by 3-day food surveys completed using software www.odimet.es.…”

Section: Methodsmentioning

confidence: 99%

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

Couce

Vitoria

Aldámiz‐Echevarría

et al. 2016

Orphanet J Rare Dis

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BackgroundThe mainstay of treating patients with phenylketonuria (PKU) is based on a Phe-restricted diet, restrictive in natural protein combined with Phe-free L-amino acid supplements and low protein foods. This PKU diet seems to reduce atherogenesis and confer protection against cardiovascular diseases but the results from the few published studies have been inconclusive. The aim of our study was to evaluate the relationship between the lipid profile and several treatment-related risk factors in patients with hyperphenylalaninaemia (HPA) in order to optimize their monitoring.MethodsWe conducted a cross-sectional multicentre study. A total of 141 patients with HPA were classified according to age, phenotype, type of treatment and dietary adherence. Annual median blood phenylalanine (Phe) levels, Phe tolerance, anthropometric measurements, blood pressure (BP) and biochemical parameters [(triglycerides, total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), apolipoprotein A (ApoA), apolipoprotein B (ApoB), vitamin B12, total homocysteine (tHcy), Methionine (Met), high sensitivity C-Reactive Protein (hsCRP)] were collected for each patient.ResultsPlasma TC levels were lower in patients with PKU than in the mild-HPA group (150 ± 31 vs. 164 ± 22 mg/dL), and there was a weak inverse correlation between plasma TC and Phe levels. HDL-C, LDL-C, ApoA and ApoB levels were lower in the PKU group than in mild-HPA. Patients with PKU had higher systolic BP than the mild-HPA group and there was found a quadratic correlation between median Phe levels and systolic BP (p = 6.42e-5) and a linear correlation between median Phe levels and diastolic BP (p = 5.65e-4). In overweight or obese PKU patients (24.11 %), biochemical parameters such as TC, triglycerides, LDL-C, tHcy, hsCRP and BP were higher. By contrast, HDL-C was lower in these patients.ConclusionOur data show a direct correlation between lipid profile parameters and good adherence to the diet in PKU patients. However, lipid profile in overweight or obese patients displayed an atherogenic profile, in addition to higher hsCRP concentrations and BP. Our study contributes to a better understanding of the relationship between phenotype and treatment in patients with HPA, which could be useful in improving follow-up strategies and clinical outcome.Trial registrationResearch Ethics Committee of Santiago-Lugo 2015/393. Registered 22 September 2015, retrospectively registered.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-016-0508-x) contains supplementary material, which is available to authorized users.

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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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Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy

Cited by 73 publications

References 29 publications

High prevalence of overweight and obesity in females with phenylketonuria

High prevalence of overweight and obesity in females with phenylketonuria

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

Up to date knowledge on different treatment strategies for phenylketonuria

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