Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy

Pembe Soylu Üstkoyuncu; Ahmet Sami Güven; Hatice Gamze Poyrazoğlu; Songül Gökay; Fatih Kardaş; Mustafa Kendirci; İkbal Gökçek; Yasemin Altuner Torun

doi:10.4274/tnd.2019.82608

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

Keywords: Inherited metabolic disorder, epilepsy, intellectual disability, metabolic screening

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.