Spectrum of Inherited Metabolic Disorders with Neurological Manifestations in Children Presenting to Neurology Department

Abstract

Objective: To determine the frequency and spectrum of various inherited metabolic disorders in children with neurological manifestations

Study Design: A Cross-Sectional Observational Study

Place and Duration Of Study: Department Of Pediatric Neurology, The Children’s Hospital & University of Child Health Sciences, Lahore for 12 months

Material and methods: This Cross-Sectional Study was done at Department of Pediatric Neurology, The Children’s Hospital & University of Child Health Sciences, Lahore from May 2021 to April 2022. Forty-seven children with high suspicion of neurometabolic disorder were enrolled. All patients underwent full history, a thorough clinical examination, and relevant laboratory investigations. Routine investigations including basic metabolic workup, radiological investigations and EEG (Electroencephalography) were carried out at the study campus. Comprehensive metabolic tests including Plasma Aminoacids, Urine organic acids and Whole Exome Sequencing was done from outside labs in selected cases. Those with a specific inherited neurometabolic disorder were included in the study while patients with normal metabolic work-up were excluded. All the collected data was entered and analyzed in SPSS software version 21.

Results: Out of 47 enrolled patients, there was a male predominance 57.4% (27) with a mean age of 2.76 ± 2.89 years (range=0-15 years), with most of them presenting at age of less than 2 years. Most of the children, 87.2 % (41) were born to consanguineous parents. Most common neurological manifestation was seizures 74.5% (35), followed by developmental delay 68.1% (32), Encephalopathy 63.8% (30) and developmental regression in 38.3% (18) cases. Out of 47 children, the most common group of disorder was Organic Acidemias 59.5% (28) followed by Aminoacidopathy in 23.4% (11) of cases.

Conclusion: Consanguinity is found to be significantly associated with inherited metabolic disorders. Organic acidemias followed by Aminoacidopathies are among the commonest group while Methylmalonic acidemia and Multiple carboxylase deficiency are amongst the most common type of inherited metabolic disorder.

Key words: spectrum, inherited metabolic disorders, neurological manifestations, Consanguinity