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Congenitally defective metabolic pathways adversely affect the quality of life of patients as well as their care givers. Early diagnosis is therefore vital. Frequently, radio-imaging alone raises a strong suspicion and sometimes even provides conclusive evidence of defective metabolic pathways, when the patient presents with signs and symptoms that clinically fail to lead to a definitive diagnosis. This article discusses the role of radiological imaging that can lead to a strong suspicion, or even a diagnosis of these errors.

Radio-imaging for detecting congenitally defective metabolic pathways: A review