The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review

El-Metwally, Ashraf; Al-Ahaidib, Lujane Y.; Sunqurah, Alaa Ayman; Al-Surimi, Khaled; Househ, Mowafa; Alshehri, Ali; Da’ar, Omar B.; Razzak, Hira Abdul; Al‐Odaib, Ali

doi:10.1155/2018/7697210

Cited by 40 publications

(29 citation statements)

References 42 publications

(50 reference statements)

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“…Considering the birth rate of Şanlıurfa province in Turkey in 2018, PKU incidence in our study was found to be 1/7214. As PKU is an AR disease, it is more commonly seen in geographical regions with frequent consanguineous marriages, as in Turkey (2,5,18,19). In our study, it was seen that the consanguineous marriages and PKU histories in siblings were more frequent in positive cases with positive PMD compared to the negative group.…”

Section: Discussionsupporting

confidence: 56%

Comparison of Fluorometric İmmunoassay and Tandem Mass Spectrometry Methods Used in the Diagnosis of Phenylalanine Metabolism Disorders in Turkish Children

Kazanasmaz¹,

Karaca²

2019

Istanbul Med J

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Amaç: Fenilketonüri (FKU), önlenebilir zihinsel geriliğin yaygın nedenlerinden biridir. Bu nedenle, hastalığın erken tespiti ile başlatılan diyet ve/veya kofaktör tedavisi, klinik açıdan çok önemlidir. Bu çalışmada, fenilalanin metabolizma bozukluğu (FMB) tanısında kullanılan floresans immünolojik testi (FIA), tandem kütle spektrometrisi (MS/MS) ve plazma amino asit analiz (AAA) yöntemlerinin özgüllüğü ve duyarlılığı karşılaştırıldı. Yöntemler: Birinci basamak sağlık kurumlarından FMB (n=163) ön tanısıyla kliniğimize yönlendirilen hastalar çalışmaya dahil edildi. Bulgular: Kliniğimize başvuran hastaların medyan yaşı 3 aydı (minimum-maksimum: 0-25). Numunelerin yenidoğan tarama programında %68,1 oranında tekrar gönderildiği görüldü. FIA ile belirlenen 2,95 mg/dL fenilalanin (Phe) cutoff değerinde, %73,3 duyarlılık ve %78,6 özgüllük saptandı. MS/ MS ile belirlenen Phe ≥94,94 μmol/L kesme değeri için %93,3 duyarlılık ve %92,2 özgüllük saptandı. Sonuç: Olguların tanısında klinik bir gecikme tespit edildi. Klinik gecikmeye sebep olarak, tarama programındaki örneklerin sık tekrarlanması ve ailelerin hastalık hakkında yeterli bilgiye sahip olmaması düşünülmektedir. Çalışmamızda MS/MS'nin FIA'dan daha etkili bir yöntem olduğu gösterilmiştir. Yenidoğan tarama programında FMB tespitinde FIA yerine MS/MS kullanımının tanısal gecikmenin önlenmesinde etkili olabileceği düşünülmektedir.

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Section: Discussionsupporting

confidence: 56%

Comparison of Fluorometric İmmunoassay and Tandem Mass Spectrometry Methods Used in the Diagnosis of Phenylalanine Metabolism Disorders in Turkish Children

Kazanasmaz¹,

Karaca²

2019

Istanbul Med J

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“…1 The prevalence of PKU ranges from rather rare (e.g., in Japan 1:120000 and Thailand 1:122000), to very common (e.g., in the Karachay-Cherkess Republic of Russia 1:850 9 and Sicily, Italy 1:2700). 10 Prevalence reports in the Arab countries are scarce, 11 and there is no solid data on the prevalence of PKU in Jordan. 12,13 In this study, we characterized patients with HPA and their family members from the Pediatric Metabolic Genetics Clinic at the King Hussein Medical Center, Amman, Jordan biochemically and genetically, differentiating between PKU and BH 4 deficiencies.…”

Section: Introductionmentioning

confidence: 99%

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

et al. 2020

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Background Information regarding the prevalence of PKU in the Middle East in comparison to other world regions is scarce, which might be explained by difficulties in the implementation of national newborn screening programs. Objective This study seeks for the first time to genotype and biochemically characterize patients diagnosed with hyperphenylalaninemia (HPA) at the Pediatric Metabolic Genetics Clinic at the King Hussein Medical Center, Amman, Jordan. Methods A total of 33 patients with HPA and 55 family members were investigated for pterins (neopterin and biopterin) and dihydropteridine reductase (DHPR) activity in dried blood spots. Patients with HPA were genotyped for phenylketonuria (PKU) and the genes involved in tetrahydrobiopterin (BH4) metabolism. Results In total 20 patients were diagnosed with PKU due to phenylalanine hydroxylase (PAH) deficiency, 2 with GTP cyclohydrolase I (GTPCH) deficiency, 6 with DHPR deficiency, and 3 with the 6‐pyruvoyl‐tetrahydropterin synthase (PTPS) deficiency. Diagnosis was not possible in 2 patients. This study documents a high percentage of BH4 deficiencies within HPA patients. With one exception, all patients were homozygous for particular gene variants. Conclusions This approach enables differentiation between PKU and BH4 deficiencies and, thus, allows for critical selection of a specific treatment strategies.

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“…Irreversible effects on the brain can be prevented by timely detection and control of phenylalanine levels in the blood (7). Neonatal screening is a population-based public health screening program implemented for early detection (8). PKU screening is a prerequisite for early implementation of the Phe restricted diet, which is essential to prevent severe neurological disorders in patients with PKU (9).…”

Section: Introductionmentioning

confidence: 99%

A policy Analysis of Phenylketonuria Screening National Program in Iran

Heidari

Arab

Damari

2020

Preprint

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Background Phenylketonuria (PKU) Screening is a public health measure aimed at identifying the early cases and managing the affected infants and trying to reduce infant morbidity and mortality. The aim of this study was to analyze the policies of the PKU national screening program in Iran. Methods PKU screening program policies were analyzed according to the policy triangle model. Document review and 38 semi-structured interviews were used for data collection. Document review data were analyzed using content analysis and interview data were analyzed using framework analysis. Results The findings of the study were categorized according to the content (structure and organization, rules, bylaws and guidelines), process (agenda setting, formation, implementation, and evaluation of screening policies and programs), the policy context (political and executive factors, economic and financial factors, social and cultural factors), and the stakeholders(Genetics office, Network Development Bureau, Population and Family Health Bureau, Health Reference Laboratory, Pediatric Health Department, Health Vice-Chancellor of Medical Sciences, Health Ministry Deputy of Health, PKU Selected Hospitals, Pastor Institute, Food and Drug Administration and Research Centers. Welfare Organization, the Health Insurance Agency, the PKU Patient Support Association, the Post Company, and the Registry). Conclusions The policy triangle framework helped to explain the different components of the PKU screening program.

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The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review

Cited by 40 publications

References 42 publications

Comparison of Fluorometric İmmunoassay and Tandem Mass Spectrometry Methods Used in the Diagnosis of Phenylalanine Metabolism Disorders in Turkish Children

Comparison of Fluorometric İmmunoassay and Tandem Mass Spectrometry Methods Used in the Diagnosis of Phenylalanine Metabolism Disorders in Turkish Children

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

A policy Analysis of Phenylketonuria Screening National Program in Iran

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