Vol. 7, Issue 2, Part A (2025)

Background: Neurogenetic and inborn errors of metabolism (IEMs) are rare but treatable causes of childhood neuroregression, seizures, and movement disorders. Timely diagnosis using metabolic and genetic tools can reverse or mitigate progression.
Methods: We present four pediatric cases with varied neurogenetic and metabolic disorders: Glutaric Aciduria Type I, Biotinidase Deficiency, KCTD7-related Progressive Myoclonus Epilepsy, and Lesch-Nyhan Syndrome.
Results: Despite overlapping neurological phenotypes, distinct biochemical and genetic profiles were observed. Early initiation of targeted therapy led to significant clinical improvement in all cases.
Conclusion: These cases emphasize the need for early suspicion and investigation of neurogenetic disorders in children with unexplained regression, seizures, or movement abnormalities. Early diagnosis can dramatically alter outcomes in these otherwise devastating conditions.