Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy

Journal Title: UNKNOWN - Year 2019, Vol 25, Issue 3

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.

Authors and Affiliations

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

Keywords

Related Articles

Idiopathic Intracranial Hypertension: Diagnosis and Therapeutic Approach

Idiopathic intracranial hypertension (IIH) is a condition of increased intracranial pressure without a secondary etiology. IIH is seen frequently in young and obese women. Headache, vision problems, and pulsatile tinnitu...

Quality of Life, Coping, and Social Support in Patients with Multiple Sclerosis: A Pilot Study

Objective: The aim of this study was to obtain information concerning the relationship between the sociodemographic attributes, social support systems, coping strategies, and quality of life of patients with multiple scl...

Assessment of Trunk Control in Patients with Neuromuscular Diseases: Validity and Reliability of the Trunk Impairment Scale

Objective: The aim of our study was to determine the reliability and validity of the Trunk Impairment Scale (TIS) in patients with adult neuromuscular diseases (NMD). Materials and Methods: Sixty-six patients with NMD pa...

Download PDF file
  • EP ID EP642986
  • DOI 10.4274/tnd.galenos.2019.82608
  • Views 103
  • Downloads 0

How To Cite

Pembe Soylu Üstkoyuncu, Ahmet Sami Güven, Hatice Gamze Poyrazoğlu, Songül Gökay, Fatih Kardaş, Mustafa Kendirci, İkbal Gökçek, Yasemin Altuner Torun (2019). Screening Inherited Metabolic Disorder in Children with Intellectual Disability and Epilepsy. UNKNOWN, 25(3), 135-139. https://europub.co.uk/articles/-A-642986