The Role of Radio-diagnosis in Inborn Errors of Metabolism

Inborn Errors of Metabolism take a heavy toll of the patient as well as their relatives due to delayed diagnosis. These occur due to defective genes leading to various metabolic abnormalities. As genetic problems are countless, so are their manifestations. Timely identification of the disease entity is the key at least to a satisfactory, if not a complete successful management in many instances. Modes of presentation and clinical features are not always characteristic and have resemblance to routine day to day illnesses. In this chaos, an appropriate use of modern strides in Imaging Sciences often enable to raise a strong suspicion in majority of the cases and even to confirm the clinical suspicion in some cases of inborn errors of metabolism. Not all of the medical fraternity is aware of this important role that radio-imaging can play. Hence a timely review of the Role of Radio-diagnosis in Inborn Errors of Metabolism is a must and is therefore attempted in this article. The author attempts to solve this diagnostic dilemma by discussing the role that each imaging modality can play to arrive at a final diagnosis. Multiple examples and images have been used generously to emphasize this point.