Study of Inborn Errors of Metabolism among Children with Unexplained Encephalopathy at Al-Azhar University Hospitals

Kohail, Ahmed; Mohamed, Mohie-eldin Tharwat; Elsayeh, Abdelsattar; Emam, Hossam

doi:10.21608/aimj.2025.446635

Study of Inborn Errors of Metabolism among Children with Unexplained Encephalopathy at Al-Azhar University Hospitals

Document Type : Original Article

Authors

¹ Neurology , Faculty of Medicine, Al-Azhar University, Cairo, Egypt

² Neurology, Faculty of Medicine for Boys, Al-Azhar University, Cairo, Egypt

³ Pediatrics, Faculty of Medicine for Boys, Al-Azhar University, Cairo, Egypt

10.21608/aimj.2025.446635

Abstract

Background: CNS infections, toxins, hepatic or renal failure, hypoxia, and inborn metabolic abnormalities can all result in encephalopathy. One out of every 2,500 babies is born with an inborn error of metabolism (IEM), which disrupts metabolic processes. It is difficult to be diagnosed.
Aim: The study aimed to determine the prevalence and classification of Inborn Errors of Metabolism (IEMs) in cases of unexplained encephalopathy in children.
Methods: The research investigated children aged 1 to 18 with idiopathic encephalopathy, encompassing a thorough neurological evaluation, medical history review, physical examination, and laboratory analyses. Laboratory analyses encompassed complete blood count, electrolyte levels, and metabolic assessment. Statistical analysis examined correlations between IMEs and demographic factors, clinical symptoms, and investigation results.
Results: The investigation evaluated 260 prospective patients from the Pediatric Neurology Unit of Al-Azhar University Hospitals, identifying 63 with a diagnosis of IEM. The median age was 3 years, with 63% male participants, 54% exhibiting consanguinity, and 21% possessing a familial history of IME. IME interferes with cerebral electrical activity, resulting in neurological manifestations such as seizures. Abnormal EEG and MRI findings were prevalent, with hepatic dysfunction observed in approximately fifty percent of the youngsters. Identified common IEMs include mitochondrial cytopathy and phenylketonuria, with no notable familial history correlation. Children exhibit clinical symptoms such as altered consciousness, convulsions, emesis, diarrhea, and respiratory distress.
Conclusion: The study sheds insight into the high rate of encephalopathy in children caused by IEMs and offers helpful recommendations for doctors to identify and diagnose these conditions early.

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