The Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries: A Systematic Review

Mojibi, Nastaran; Ghazanfari-Sarabi, Shabnam; Hashemi‐Soteh, Mohammad Bagher

doi:10.32598/jpr.9.2.826.2

Cited by 6 publications

(4 citation statements)

References 52 publications

(55 reference statements)

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“…In Romania, newborn screening for PKU has been implemented since 1979, but only since 2011 has the program had national coverage [ 3 ]. Scarce literature works place Romanian incidence estimates in a similar range to the ones mentioned above [ 4 , 5 , 6 ].…”

Section: Introductionmentioning

confidence: 65%

PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania

et al. 2023

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Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene and is characterized by altered amino acid metabolism. More than 1500 known PAH variants intricately determine a spectrum of metabolic phenotypes. We aim to report on clinical presentation and PAH variants identified in 23 hyperphenylalaninemia (HPA)/PKU Romanian patients. Our cohort exhibited classic PKU (73.9%, 17/23), mild PKU (17.4%, 4/23), and mild HPA (8.7%, 2/23). Severe central nervous system sequelae are frequent in our cohort in late-diagnosis symptomatic patients, which highlights yet again the significance of an early dietary treatment, neonatal screening and diagnosis, and facilitated access to treatment. Next-generation sequencing (NGS) identified a total of 11 PAH pathogenic variants, all previously reported, mostly missense changes (7/11) in important catalytic domains. c.1222C>T p.Arg408Trp was the most frequent variant, with an allele frequency of 56.5%. Twelve distinct genotypes were identified, the most frequent of which was p.Arg408Trp/p.Arg408Trp (34.8%, 8/23). Compound heterozygous genotypes were common (13/23), three of which had not been previously reported to the best of our knowledge; two correlated with cPKU and one showed an mPKU phenotype. Generally, there are genotype–phenotype correlation overlaps with the public data reported in BIOPKUdb; as our study shows, clinical correlates are subject to variation, in part due to uncontrolled or unknown epigenetic or environmental regulatory factors. We highlight the importance of establishing the genotype on top of using blood phenylalanine levels.

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Section: Introductionmentioning

confidence: 65%

PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania

et al. 2023

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“…There are no accurate statistics on the incidence of PKU in Iran. However, based on the reports, its prevalence in the country is about 0.027% (1 in 3,627 live births) [ 22 , 23 ] . Distribution of different types of PAH mutations varies in different regions of Iran.…”

Section: Methodsmentioning

confidence: 99%

Multiplex Snapshot Minisequencing for the Detection of Common PAH Gene Mutations in Iranian Patients with Phenylketonuria

Aligoodarzi

Rostami

Nezhad

et al. 2023

IBJ

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Background: Phenylketonuria is a common inborn defect of amino acid metabolism in the world. This failure is caused by an autosomal recessive insufficiency of the hepatic enzyme PAH, which catalyzes the irreversible hydroxylation of phenylalanine to tyrosine. More than 1,040 different disease-causing mutations have already been identified in the PAH gene. The most prominent complication of PKU, if not diagnosed and treated, is severe mental retardation. Hence, early diagnosis and initiation of nutritional therapy are the most significant measures in preventing this mental disorder. Given these data, we developed a simple and rapid molecular test to detect the most frequent PAH mutations. Methods: Multiplex assay was developed based on the SNaPshot minisequencing approach to simultaneously perform genotyping of the 10 mutations at the PAH gene. We optimized detection of these mutations in one multiplex PCR, followed by 10 single-nucleotide extension reactions. DNA sequencing assay was also used to verify genotyping results obtained by SNaPshot minisequencing. Result: All 10 genotypes were determined based on the position and the fluorescent color of the peaks in a single electropherogram. Sequencing results of these frequent mutations showed that by using this method, a 100% detection rate could be achieved in the Iranian population. Conclusion: SNaPshot minisequencing can be useful as a secondary test in neonatal screening for HPA in neonates with a positive screening test, and it is also suitable for carrier screening. The assay can be easily applied for accurate and time- and cost-efficient genotyping of the selected SNPs in various population.

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“…The prevalence rates of autism and ID can vary across different countries due to various factors such as diagnostic criteria, access to healthcare, cultural differences, and data collection methods. [6,16] It is important to note that prevalence rates can also change over time as diagnostic practices evolve and awareness increases.…”

Section: Prevalence Rate Of Autism and Id In Various Countriesmentioning

confidence: 99%

Exploring the interconnection of autism and intellectual disability: Advancements in current research overview

Anand,

Singh

2023

Pharmaspire

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This comprehensive review provides an in-depth examination of the current understanding of the link between autism spectrum disorder (ASD) and intellectual disability (ID). Drawing from empirical research, clinical studies, and theoretical frameworks, the review explores the shared features, etiological factors, diagnostic challenges, and intervention strategies associated with the cooccurrence of ASD and ID. Neurobiological overlaps, including genetic and neurodevelopmental perspectives, are discussed to uncover the complex relationship between these conditions. The review also highlights the phenotypic variability observed in individuals with dual diagnoses, emphasizing the need for personalized approaches to assessment and intervention. Diagnostic considerations, such as diagnostic criteria, assessment tools, and potential biases, are addressed to improve accurate identification and classification. Furthermore, the impact of ASD and ID on various aspects of daily functioning, including cognitive abilities, adaptive skills, social interaction, and academic achievement, is examined. Evidence-based intervention strategies, ranging from behavioral interventions to educational approaches, are explored, along with the importance of early intervention and multidisciplinary collaboration. By synthesizing existing knowledge, this review aims to deepen our understanding of the link between ASD and ID, providing valuable insights for researchers, clinicians, and educators. The review concludes with suggestions for future research directions, highlighting the need for longitudinal studies, advanced neuroimaging techniques, and the development of targeted interventions for individuals with dual diagnoses. Ultimately, this review serves as a comprehensive resource to inform clinical practice, policy-making, and further advancements in supporting individuals with ASD and ID.

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The Prevalence and Incidence of Congenital Phenylketonuria in 59 Countries: A Systematic Review

Cited by 6 publications

References 52 publications

PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania

PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania

Multiplex Snapshot Minisequencing for the Detection of Common PAH Gene Mutations in Iranian Patients with Phenylketonuria

Exploring the interconnection of autism and intellectual disability: Advancements in current research overview

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