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

Congenitally defective metabolic pathways adversely affectthe quality of life of patients as well as their care givers. Earlydiagnosis is therefore vital. Frequently, radio-imaging aloneraises a strong suspicion and sometimes even providesconclusive evidence of defective metabolic pathways, whenthe patient presents with signs and symptoms that clinicallyfail to lead to a definitive diagnosis. This article discusses therole of radiological imaging that can lead to a strong suspicion,or even a diagnosis of these errors.