Inherited metabolic disorders (IMDs) are a large group of genetically determined disorders involving abnormalities in transmembrane transport of specific metabolites or in metabolic enzymes of carbohydrates, amino acids, nucleic acids, or fat metabolism. More than 3500 IMDs have now been identified and they vary considerably in morbidity and mortality. Some are relatively harmless with patients able to lead a virtually normal life, some require to exercise caution of using causative agents, whereas some IMDs cause severe handicap and premature death. In some instances, morbidity can be avoided with early diagnosis and treatment; however, in some more severe cases, the damage is permanent and irreversible resulting in permanent neurometabolic damage or early fatality IMD can also have varied ophthalmological effects. Identification of an IMD is based on the comprehensive data including personal and family history, detailed clinical examination, high index of suspicion, and appropriate investigations. Hence, awareness of ophthalmic as well as general clinical features is very important for all clinicians, especially neonatologists, pediatricians, and ophthalmologist. With the provisional diagnosis of an IMD, directed investigations toward identification of missing / accumulated metabolite may provide the clue to diagnosis, followed by direct analysis of enzymes and proteins in blood, fresh tissue specimen, or cultured cells, which will finally confirm the final diagnosis.