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Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy [Turk J Neurol]
Turk J Neurol. 2019; 25(3): 135-139 | DOI: 10.4274/tnd.galenos.2019.82608  

Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy

Pembe Soylu Üstkoyuncu1, Ahmet Sami Güven2, Hatice Gamze Poyrazoğlu2, Songül Gökay1, Fatih Kardaş3, Mustafa Kendirci3, İkbal Gökçek4, Yasemin Altuner Torun4
1University of Health Sciences, Kayseri Training and Research Hospital, Clinic of Pediatric Nutrition and Metabolism, Kayseri, Turkey
2University of Health Sciences, Kayseri Training and Research Hospital, Clinic of Pediatric Neurology, Kayseri, Turkey
3Erciyes University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Kayseri, Turkey
4University of Health Sciences, Kayseri Training and Research Hospital, Clinic of Pediatrics, Kayseri, Turkey

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


Pembe Soylu Üstkoyuncu, Ahmet Sami Güven, Hatice Gamze Poyrazoğlu, Songül Gökay, Fatih Kardaş, Mustafa Kendirci, İkbal Gökçek, Yasemin Altuner Torun. Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy. Turk J Neurol. 2019; 25(3): 135-139

Corresponding Author: Pembe Soylu Üstkoyuncu, Türkiye


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