Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy/Zeka Geriligi ve Epilepsisi Olan Cocuklarda Kalitsal Metabolik Hastalik Taramasi.

Citation metadata

Authors: Pembe Soylu Ustkoyuncu, Ahmet Sami Guven, Hatice Gamze Poyrazoglu, Songul Gokay, Fatih Kardas and Mustafa Kendirci
Date: Sept. 2019
From: Turkish Journal of Neurology(Vol. 25, Issue 3)
Publisher: Galenos Yayinevi Tic. Ltd.
Document Type: Article
Length: 2,521 words

Main content

Abstract :

Objective: To indicate the benefits of the screening of inherited metabolic disorders in patients with epilepsy, global developmental delay, and intellectual disability Materials and Methods: The medical records of 1100 patients who were investigated for inherited metabolic disorders between March 2014 and June 2017 were evaluated. Five hundred patients with epilepsy and global developmental delay/intellectual disability with mild/moderate and non-specific neurologic findings were enrolled in the study Results: Inherited metabolic disorders were detected in 7 of 500 patients (1.4%) with epilepsy and global developmental delay/intellectual disability. One patient was diagnosed as having tyrosinemia type-2, one had Menkes disease, one had mitochondrial disease, one had hyperphenylalaninemia, two siblings were diagnosed as having 3-methylcrotonyl Coa carboxylase deficiency, and one patient was diagnosed as having phenylketonuria. Conclusion: The prevalence of inherited metabolic disorders is higher in countries with a high consanguinity ratio such as Turkey. Lack of the regular screening in patients with mild/moderate and non-specific neurologic findings result in late diagnosis. Keywords: Inherited metabolic disorder, epilepsy, intellectual disability, metabolic screening Amac: Bu calismanin amaci epilepsi, yaygin gelisimsel gecikme ve zeka geriligi olan hastalarda kalitsal metabolik hastalik taramasi yapmanin yararlarini gostermektir. Gerec ve Yontem: Mart 2014 ve Haziran 2017 arasinda kalitsal metabolik hastalik nedeniyle arastirilan 1100 hastanin tibbi kayitlari degerlendirildi. Calismaya hafif/orta ve non-spesifik norolojik bulgusu olan 500 epilepsi ve yaygin gelisimsel gecikme/zeka geriligi olan hasta alindi. Bulgular: Epilepsi ve yaygin gelisimsel gecikme/zeka geriligi olan 500 hastanin 7'sinde (%1,4) kalitsal metabolik hastalik tespit edildi. Bir hastaya tirozinemi tip-2, bir hastaya Menkes hastaligi; bir hastaya mitokondriyal hastalik, bir hastaya hiperfenilalaninemi, 2 kardese 3-metilkrotonil CoA karboksilaz eksikligi ve bir hastaya da fenilketonuri tanisi konuldu. Sonuc: Turkiye gibi yuksek akrabalik oranina sahip ulkelerde kalitsal metabolik hastalik prevalansi daha yuksektir. Hafif/orta ve non-spesifik norolojik bulgulari olan hastalarda duzenli bir taramanin olmamasi gec tani ile sonuclanir. Anahtar Kelimeler: Kalitsal metabolik hastalik, epilepsi, zeka geriligi, metabolik tarama

Source Citation

Source Citation
Ustkoyuncu, Pembe Soylu, et al. "Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy/Zeka Geriligi ve Epilepsisi Olan Cocuklarda Kalitsal Metabolik Hastalik Taramasi." Turkish Journal of Neurology, vol. 25, no. 3, 2019, p. 135+. Accessed 24 Nov. 2020.
  

Gale Document Number: GALE|A603468883