Dataset Information

Assessment of Anthropometric Indices in Patients with Phenylketonuria.

ABSTRACT: Objectives:Dietary phenylalanine restriction is the main treatment of phenylketonuria (PKU, OMIM 261600). There are a number of studies which have demonstrated growth retardation in these patients, and some are in contrast. This study was performed to assess the growth parameters of treated PKU patients. Materials & Methods:This cross-sectional study was performed between 2015 and 2017 to compare growth indices in PKU patients in our clinics with normal age and sex matched controls. Weight, height, head circumference (HC), weight for height and BMI (weight/height2) were measured and converted into Z-scores. We assessed differences between patients and controls' anthropometric indexes in all patients and separately in patients who were diagnosed by newborn screening program and patients who were diagnosed after presentation of clinical manifestations in comparison with age and sex-matched controls. Also, this difference was assessed separately in patients aged two years and less. Correlations between pretreatment plasma phenylalanine concentrations mean plasma phenylalanine concentrations and anthropometric parameters were analyzed in the patients. Results:Overall, 209 under-treatment PKU patients (103 males, 106 females; mean age 9.29 ± 8.7 years) and 216 controls (109 males and 107 females; mean age 8.98 ± 8.62 years) matched in terms of age, sex and birth weight were enrolled in this study. In general, 130 patients were diagnosed by newborn screening and 79 were diagnosed when they became symptomatic before the screening program. A significant difference (p=0.000) was found only in HC z-score and weight for height z-score in comparison with the control group, when we assessed all patients. We did not find any significant differences in any of the anthropometric indexes between cases and controls who were aged 2 years old and less. Head circumference SDS and weight for height SDS were significantly different when patients and controls who were more than 2 years old were compared. Mean HC was significantly lower in patients, while BMI SDS, weight SDS, and weight for height SDS were significantly higher in PKU patients in comparison with the control group when patients who were diagnosed in newborn screening were assessed. Head circumference SDS, BMI, height SDS and difference between patients' height SDS and mid parental height SDS had significantly lower mean scores in comparison with those of the control group, while mean weight SDS was significantly higher compared to controls when patients who were diagnosed after clinical presentation were assessed. Mean phenylalanine was not correlated with anthropometric indices, while there was a correlation between pretreatment phenylalanine and HC. Conclusion:Disparities in anthropometric indexes changes observed in different studies may be due to diverse diet protocols, availability of various specific products and micronutrient substitutes.

SUBMITTER: Shakiba M

PROVIDER: S-EPMC7085128 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Assessment of Anthropometric Indices in Patients with Phenylketonuria.

Shakiba Marjan M Alaei Mohammadreza M Saneifard Hedyeh H Mosallanejad Asieh A

Iranian journal of child neurology 20200101 2

<h4>Objectives</h4>Dietary phenylalanine restriction is the main treatment of phenylketonuria (PKU, OMIM 261600). There are a number of studies which have demonstrated growth retardation in these patients, and some are in contrast. This study was performed to assess the growth parameters of treated PKU patients.<h4>Materials & methods</h4>This cross-sectional study was performed between 2015 and 2017 to compare growth indices in PKU patients in our clinics with normal age and sex matched control ...[more]

PMID: 32256622

Similar Datasets

Project description:BACKGROUND: Phenylketonuria (PKU) is a chronic inborn error of amino acid metabolism that requires lifelong follow-up and intervention, which may represent strains on Quality of Life (QoL). This observational study evaluated QoL in a cohort of PKU patients, using updated and detailed instruments. METHODS: 22 patients with mild PKU respondent to BH4 and 21 patients with classical PKU treated with diet were recruited in this study. Adult patients completed WHOQOL questionnaire-100 (WHOQOL-100) and pediatric patients the Pediatric QoL inventory (PedsQL(TM)). Psychiatric and mood disorders were also evaluated using TAD or BDI and STAI-Y inventories. A multivariable linear regression model was fitted to investigate the predictors of QoL, including age, sex, treatment type, length of current treatment, educational level and employment status (only for adults) as covariates. Results were presented as regression coefficients with 95% confidence interval. RESULTS: Global QoL scores were within normal range both in patients with mild and classical disease but global QoL scores were significantly higher in patients with mild PKU under BH4 treatment as compared to those affected by classical disease who were under diet regimen. Furthermore, QoL significantly increased in long treated PKU patients. Among adult patients, QoL scores were significantly lower in males, in patients with lower education and in those employed or unemployed as compared to students (baseline). CONCLUSIONS: Both diet and medical treatment based upon BH4 seem to be associated with higher QoL in the long run. However, patients with mild PKU can rely on BH4 to achieve a higher Phe tolerance and a better compliance to therapy due to diet relaxation/avoidance. Some specific categories of patients with a lower QoL should be investigated more in depth, engaging with those at risk of lower treatment compliance. The questionnaires employed in the present study seemed to be able to effectively detect criticalities in QoL assessment and represent an advance from previous inventories employed in the past.

Project description:Despite several papers having been published on the association between adiposity and the risk of metabolic syndrome (MetS), it is still difficult to determine unambiguously which of the indices of nutritional status is the best to identify MetS. The aim of this study was to analyze the ability of six anthropometric indices to identify MetS in the Polish population. The highest odds ratios for the occurrence of MetS, according to International Diabetes Federation (IDF), were noted for the following indices: waist-to-height ratio (WHtR, OR = 24.87) and Clínica Universidad de Navarra-body adiposity estimator (CUN-BAE, OR = 17.47) in men and WHtR (OR = 25.61) and body roundness index (BRI, OR = 16.44) in women. The highest odds ratios for the modified definition of MetS (without waist circumference) were found for the following indices: WHtR (OR = 7.32), BRI (OR = 6.57), and CUN-BAE (OR = 6.12) in women and CUN-BAE (OR = 5.83), WHtR (OR = 5.70), and body mass index (BMI, OR = 5.65) in men (p < 0.001 for all). According to the Receiver Operating Characteristic (ROC) analyses conducted for the identification of MetS, defined in accordance with IDF, the largest areas under the curve (AUCs) in men were observed for WHtR and CUN-BAE indices, whereas in women, they were observed for WHtR and BRI. In the analysis carried out for the identification of MetS (according to modified definition, without waist circumference), the AUCs were larger for WHtR and BRI in women, while in men, they were larger for CUN-BAE, BMI, and WHtR. BMI was also characterized by a relatively strong discriminatory power in identifying individuals with MetS. An optimal cut-off point for MetS, in accordance with the conventional definition, for both sexes was the value of BMI = 27.2 kg/m2. The weakest predictor of the syndrome was the ABSI (a body shape index) indicator. The most useful anthropometric indicator for the identification of MetS, both in men and in women in the Polish population, was WHtR. The optimal cut-off points for WHtR equaled 0.56 in men and 0.54 in women.

Dataset Information

Assessment of Anthropometric Indices in Patients with Phenylketonuria.

Publications

Assessment of Anthropometric Indices in Patients with Phenylketonuria.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets