Inborn errors of metabolism are a large group of hereditary biochemical disease in which specific gene mutations cause abnormal (or) missing proteins that lead to alter function. Inborn error of metabolism occurs from a group a rare genetic disorder in which the body cannot metabolize food components normally. Here we report a case of L2 Hydroxyglutaricaciduria, a rare inherited genetic disorder that affects TCA cycle and the child presented with typical symptoms such as seizure, hypotonia and global developmental delay.1
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