Food Habits and Lifestyle in Hyperphenylalaninemia Patients: Should These Be Monitored?

Dicintio, Annamaria; Paterno, Giulia; Carella, Rosa; Ortolani, Federica; Masciopinto, Maristella; Giovanni, Donatella De; Tummolo, Albina

doi:10.3390/children9081164

Cited by 2 publications

(1 citation statement)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The prevalence of PKU varies globally, with an average incidence of approximately 1 in 10,000 newborns [2]. Based on blood Phe concentration, PKU can be classified as either classic or non-classic, with classic PKU representing the majority of cases [5]. The milder form of PAH deficiency is known as moderate PKU, mild PKU, mild hyperphenylalaninaemia (HPA), or benign HPA, while the severe form is called classic PKU [2].…”

Section: Introductionmentioning

confidence: 99%

Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City

Yu¹,

Liu²,

Wei³

et al. 2023

Discovery Medicine

View full text Add to dashboard Cite

Background: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive disorder affecting phenylalanine (Phe) metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene. It has a complex phenotype with many variants and genotypes in various populations. This study sets out to analyze the screening results of children with phenylketonuria (PKU) in Yinchuan City and characterize the mutation variants of the PAH gene. Methods: Phenylketonuria screening results were retrospectively analyzed in 398,605 neonates (207,361 males and 191,244 females) born in different maternity hospitals in Yinchuan City between January 2017 and December 2021. Screening for genetic metabolic diseases was performed with parental consent at their own expense. A comprehensive diagnosis was performed by integrating tandem mass spectrometry (MS/MS) findings with clinical presentations. High-throughput sequencing (HTS) was used to detect genetic and metabolic disease-associated genes in children with PKU who were clinically diagnosed and voluntarily tested. The identified loci were validated through Sanger sequencing and parental verification. Results: Among the screened newborns, 45 (11.3/100,000) PKU cases were diagnosed. In the 38 cases that underwent selffinanced PAH sequencing, 56 mutations were detected in 76 chromosomes, with an overall detection rate of 73.7%. All patients harbored mutant genes, and the 56 mutations detected identified represented 14 variants, including 8 missense mutations, 2 splicing mutations, 2 nonsense mutations, and 2 silent mutations. The mutations were primarily distributed in exons 2, 3, 6, 7, 9, 11, and intron 4, with the highest frequency observed in exon 7 (25 [44.7%]), followed by exon 11 (15 [26.7%]). The most prevalent mutations were exon 7-p.R252W (10 [17.9%]) and exon 7-p.R261Q (8 [14.3%]). Conclusions: The PAH gene mutations in children with PKU in Yinchuan City are predominantly concentrated in exons 6, 7, and 11, with the highest detection rates observed for p.R252W and p.R261Q mutations.

show abstract

Section: Introductionmentioning

confidence: 99%

Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City

Yu¹,

Liu²,

Wei³

et al. 2023

Discovery Medicine

View full text Add to dashboard Cite

show abstract

Growth Parameters and Prevalence of Obesity in PKU Patients and Peers: Is This the Right Comparison?

Paterno,

Di Tullio,

Carella

et al. 2024

Pediatric Reports

View full text Add to dashboard Cite

Background: One of the main objectives of Phenylketonuria (PKU) management is represented by optimising the growth trend under restricted protein diet regimen. The data on long-term growth in PKU children are limited and mostly based on earlier studies. Methods: The data for this twelve-year longitudinal study were collected from 34 PKU children and 37 healthy peers, whose auxological parameters were taken at 7 time-points over the follow-up. The weight-for-length ratio (WLR) z-score and body mass index (BMI) z-score were considered according to age. Prevalence of overweight/obesity was evaluated at last assessment. Results: The median BMI z-score of PKU children was normal and not statistically different from that of controls on all the seven time-point assessments. Their distributions tended to be wider than those of peers, with the upper limit exceeding the normal range since 12 months old, with a peak specifically at 3 years of age. In controls, there was a tendency to approach the BMI z-score values of overweight in later childhood. The prevalence of overweight was comparable (29% vs. 25%, p: 0.78) between the two groups at last assessment, and obese subjects (3/37) were only detected in the control group. Conclusions: In this study, we report data from a long-term follow-up on growth, highlighting that the median BMI z-score of PKU children was normal and not statistically different from that of controls. Also, the prevalence of obesity at 12 years of age was overlapping. However, the high prevalence of overweight children in the general population may explain the lack of difference and does not reassure about patients’ nutritional risk.

show abstract

Food Habits and Lifestyle in Hyperphenylalaninemia Patients: Should These Be Monitored?

Cited by 2 publications

References 35 publications

Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City

Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City

Growth Parameters and Prevalence of Obesity in PKU Patients and Peers: Is This the Right Comparison?

Contact Info

Product

Resources

About