Incidence of phenylketonuria and hyperphenylalaninaemia in a sample of the Turkish newborn population

Ozalp, I; Coşkun, Turgay; Ceyhan, Mehmet; Tokol, S.; Oran, O; Gönüllü, Erdem; Tekinalp, Gülsevin; Durmuş, Zerrin Gürel; Tarikahya, Y.

doi:10.1007/bf01799716

Cited by 19 publications

(4 citation statements)

References 4 publications

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“…The lowest prevalence was reported for the Aramco Province in Eastern Saudi Arabia (0.0072%) [25] and the highest for Ankara (0.038%) [27]. Other studies estimated prevalence through selective screening for sick/symptomatic newborns and/or infants, children, and adults such as the ones conducted in Bahrain, Kuwait, Oman, Egypt, Jordan, Lebanon, and Iran.…”

Section: Discussionmentioning

confidence: 99%

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

El-Metwally

Al-Ahaidib

Sunqurah

et al. 2018

BioMed Research International

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Background/Objectives This paper seeks to identify the prevalence of Phenylketonuria (PKU) in Arab countries, Turkey, and Iran. The study reviewed the existence of comprehensive national newborn screening programs and reported consanguinity rates. Methods A computer based literature search was conducted using relevant keywords to retrieve studies conducted on PKU. A total of 34 articles were included. Prevalence was categorized based on the type of screening method used for PKU diagnoses. Results The prevalence of classical PKU diagnosed through a comprehensive national newborn screening program ranged from 0.005% to 0.0167%. The highest prevalence was reported in Turkey at 0.0167%, whereas the lowest prevalence was reported in the UAE, 0.005%. Conclusion The findings of this review emphasize the need for the establishment of more efficient reporting systems in these countries that would help measure Disability-Adjusted Life Year (DALY) in order to estimate the overall societal burden of PKU.

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Section: Discussionmentioning

confidence: 99%

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

El-Metwally

Al-Ahaidib

Sunqurah

et al. 2018

BioMed Research International

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“…Although the incidence of HPA is 1 in 10,000 among Caucasians [2], there is a markedly higher incidence in other ethnicities, such as Irish (1 in 4,500) and Turkish (1 in 2,600) populations [3,4]. In individuals for whom treatment for HPA is inadequate, delayed, or who are not treated at all, there is a risk for the development of serious behavioral and psychiatric problems [5].…”

Section: Introductionmentioning

confidence: 99%

Maternal Hyperphenylalaninemia: Rapid achievement of metabolic control predicts overall control throughout pregnancy

Martino

Koerner

Yenokyan

et al. 2013

Molecular Genetics and Metabolism

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“…In a preliminary study, the variation of PKU incidence between regions in Turkey has been found to be 1:2622 (Ozalp et al, 1986) to 1:4370 (Ozalp et aI., 1990). By taking this figure into account, the estimated mutated gene frequency may show a fluctuation from 1:26 to 1:33 (Sofaer, 1983).…”

Section: Discussionmentioning

confidence: 99%

“…In Turkey, the incidence of PKU is high (1:2622-1:4370) (Ozalp et al, 1986(Ozalp et al, , 1990) and consequently PKU gene frequency is also expected to be higher than in many other countries.…”

Section: Introductionmentioning

confidence: 99%

Heterozygous carriers of classical phenylketonuria in a sample of the turkish population: Detection by a spectrofluorimetric method

Güneral

Ozalp

Tatlidil

1990

J of Inher Metab Disea

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Blood obtained by finger prick from 209 presumed normal homozygotes and 42 heterozygotes for classical PKU was analyzed for plasma phenylalanine (Phe) and tyrosine (Tyr) by a fluorimetric method. Subjects were tested near midday and 3 hours after a protein-rich breakfast. The plot of Phe/Tyr (micromolar ratio) against Phe2/Tyr, permitted the detection of 11 heterozygotes among 209 controls. The accuracy of this method was checked by computation of a stepwise multivariate discriminant analysis, using Phe and Tyr (mumol/L), Phe/Tyr micromolar ratio and Phe2/Tyr as variables. Ten of the 11 subjects were recovered with a percentage of correct classification of over 90%, while one case had a percentage of 89.45%. The PKU gene frequency was found to be 1/19. This emphasizes the importance of a screening programme for PKU gene carrier status in Turkey.

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Incidence of phenylketonuria and hyperphenylalaninaemia in a sample of the Turkish newborn population

Cited by 19 publications

References 4 publications

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

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

Maternal Hyperphenylalaninemia: Rapid achievement of metabolic control predicts overall control throughout pregnancy

Heterozygous carriers of classical phenylketonuria in a sample of the turkish population: Detection by a spectrofluorimetric method

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